chr3:4683475:C>T Detail (hg38) (ITPR1)

Information

Genome

Assembly Position
hg19 chr3:4,725,159-4,725,159 View the variant detail on this assembly version.
hg38 chr3:4,683,475-4,683,475

HGVS

Type Transcript Protein
RefSeq NM_001099952.2:c.3224C>T NP_001093422.2:p.Pro1075Leu
NM_002222.5:c.3179C>T NP_002213.5:p.Pro1060Leu
Ensemble ENST00000354582.12:c.3224C>T ENST00000354582.12:p.Pro1075Leu
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

[No Data.]

Prediction

ClinVar

Clinical Significance Uncertain significance
Review star
Show details
Links
Type Database ID Link
Gene MIM 147265 OMIM
HGNC 6180 HGNC
Ensembl ENSG00000150995 Ensembl
NCBI NCBI
Gene Cards Gene Cards
OncoKB OncoKB
Type Database ID Link
Variant TogoVar
COSMIC
MONDO
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
Clinical significance Last evaluated Review status Condition Origin Links
Uncertain significance 2018-01-23 criteria provided, single submitter Spinocerebellar ataxia type 15/16 unknown Detail
Uncertain significance 2023-06-04 criteria provided, multiple submitters, no conflicts not provided germline Detail
CIViC
[No Data.]
DisGeNET
[No Data.]
Annotation

Annotations

DescrptionSourceLinks
NM_001378452.1(ITPR1):c.3251C>T (p.Pro1084Leu) AND Spinocerebellar ataxia type 15/16 ClinVar Detail
NM_001378452.1(ITPR1):c.3251C>T (p.Pro1084Leu) AND not provided ClinVar Detail

Overlapped Transcript Coordinates

Gene Transcript ID Exon Number Chromosome Start Stop Type Amino Mutation Transcript Position Links

Overlapped Transcript

Gene Transcript ID Chromosome Start Stop Links
Gene
-
dbSNP
rs1467772045 dbSNP
Genome
hg38
Position
chr3:4,683,475-4,683,475
Variant Type
snv
Reference Allele
C
Alternative Allele
T
Genome browser