Allelic Variants - 607207

STIP1 HOMOLOGOUS AND U BOX-CONTAINING PROTEIN 1; STUB1

Allelic Variants (18 Selected Examples) :

All ClinVar Variants

Number	Phenotype	Mutation	SNP	gnomAD	ClinVar
.0001	SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 16	STUB1, LEU165PHE	rs587777340 Ensembl NCBI UCSC	-	RCV000114998
.0002	SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 16	STUB1, ASN130ILE	rs587777341 Ensembl NCBI UCSC	-	RCV000114999
.0003	SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 16	STUB1, TRP147CYS	rs587777342 Ensembl NCBI UCSC	rs587777342	RCV000115000
.0004	SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 16	STUB1, THR246MET	rs587777343 Ensembl NCBI UCSC	rs587777343	RCV000115001...
.0005	SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 16	STUB1, LEU123VAL	rs587777344 Ensembl NCBI UCSC	rs587777344	RCV000115002
.0006	SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 16	STUB1, MET240THR	rs587777345 Ensembl NCBI UCSC	-	RCV000115003
.0007	SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 16	STUB1, ALA79THR	rs587777346 Ensembl NCBI UCSC	rs587777346	RCV000115004
.0008	SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 16	STUB1, ALA79ASP	rs587777347 Ensembl NCBI UCSC	-	RCV000115005
.0009	SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 16 SPINOCEREBELLAR ATAXIA 48, INCLUDED	STUB1, ASN65SER (rs690016544)	rs690016544 Ensembl NCBI UCSC	rs690016544	RCV000149509...
.0010	SPINOCEREBELLAR ATAXIA 48	STUB1, 2-BP DEL, 823CT (rs748984540)	rs748984540 Ensembl NCBI UCSC	rs748984540	RCV000721117...
.0011	SPINOCEREBELLAR ATAXIA 48	STUB1, GLY33SER	rs2039634238 Ensembl NCBI UCSC	-	RCV001293253
.0012	SPINOCEREBELLAR ATAXIA 48	STUB1, PRO228SER	rs2039691550 Ensembl NCBI UCSC	-	RCV001293254
.0013	SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 16	STUB1, LYS145GLN (rs146251364)	rs146251364 Ensembl NCBI UCSC	rs146251364	RCV000194931...
.0014	MOVED TO 607207.0015	-	-	-	-
.0015	SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 16 SPINOCEREBELLAR ATAXIA 48, INCLUDED	STUB1, 4-BP DEL, 689ACCT	-	-	RCV001090954...
.0016	SPINOCEREBELLAR ATAXIA 48	STUB1, 2-BP DUP, 818GC	rs2039704195 Ensembl NCBI UCSC	-	RCV001293256
.0017	SPINOCEREBELLAR ATAXIA 48	STUB1, 152_158DELINSCAGC	-	-	-
.0018	SPINOCEREBELLAR ATAXIA 48	STUB1, 426_441DELINST	-	-	-

607207

STIP1 HOMOLOGOUS AND U BOX-CONTAINING PROTEIN 1; STUB1

Allelic Variants (18 Selected Examples :

Number	Phenotype	Mutation	SNP	gnomAD	ClinVar
.0001	SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 16	STUB1, LEU165PHE	rs587777340	-	RCV000114998
.0002	SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 16	STUB1, ASN130ILE	rs587777341	-	RCV000114999
.0003	SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 16	STUB1, TRP147CYS	rs587777342	rs587777342	RCV000115000
.0004	SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 16	STUB1, THR246MET	rs587777343	rs587777343	RCV000115001, RCV000995447, RCV004786372
.0005	SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 16	STUB1, LEU123VAL	rs587777344	rs587777344	RCV000115002
.0006	SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 16	STUB1, MET240THR	rs587777345	-	RCV000115003
.0007	SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 16	STUB1, ALA79THR	rs587777346	rs587777346	RCV000115004
.0008	SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 16	STUB1, ALA79ASP	rs587777347	-	RCV000115005
.0009	SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 16 SPINOCEREBELLAR ATAXIA 48, INCLUDED	STUB1, ASN65SER ({dbSNP rs690016544})	rs690016544	rs690016544	RCV000149509, RCV001575125, RCV002468569
.0010	SPINOCEREBELLAR ATAXIA 48	STUB1, 2-BP DEL, 823CT ({dbSNP rs748984540})	rs748984540	rs748984540	RCV000721117, RCV002462119
.0011	SPINOCEREBELLAR ATAXIA 48	STUB1, GLY33SER	rs2039634238	-	RCV001293253
.0012	SPINOCEREBELLAR ATAXIA 48	STUB1, PRO228SER	rs2039691550	-	RCV001293254
.0013	SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 16	STUB1, LYS145GLN ({dbSNP rs146251364})	rs146251364	rs146251364	RCV000194931, RCV000989407, RCV002517140, RCV002517982
.0014	MOVED TO 607207.0015	-	-	-	-
.0015	SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 16 SPINOCEREBELLAR ATAXIA 48, INCLUDED	STUB1, 4-BP DEL, 689ACCT	-	-	RCV001090954, RCV001293255, RCV001559327
.0016	SPINOCEREBELLAR ATAXIA 48	STUB1, 2-BP DUP, 818GC	rs2039704195	-	RCV001293256
.0017	SPINOCEREBELLAR ATAXIA 48	STUB1, 152_158DELINSCAGC	-	-	-
.0018	SPINOCEREBELLAR ATAXIA 48	STUB1, 426_441DELINST	-	-	-

NOTE: OMIM is intended for use primarily by physicians and other professionals concerned with genetic disorders, by genetics researchers, and by advanced students in science and medicine. While the OMIM database is open to the public, users seeking information about a personal medical or genetic condition are urged to consult with a qualified physician for diagnosis and for answers to personal questions.
OMIM^® and Online Mendelian Inheritance in Man^® are registered trademarks of the Johns Hopkins University.
Copyright^® 1966-2025 Johns Hopkins University.
Printed: Jan. 24, 2025