chr17:4932773:A>G Detail (hg38) (CHRNE, GP1BA)

Information

Genome

Assembly Position
hg19 chr17:4,836,068-4,836,068 View the variant detail on this assembly version.
hg38 chr17:4,932,773-4,932,773

HGVS

Type Transcript Protein
RefSeq
Ensemble ENST00000649830.1:c.-888+1569T>C
Type Transcript Protein
RefSeq NM_000173.6:c.169A>G NP_000164.5:p.Asn57Asp
Ensemble ENST00000329125.6:c.169A>G ENST00000329125.6:p.Asn57Asp
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

[No Data.]

Prediction

ClinVar

Clinical Significance Likely pathogenic
Review star
Show details
Links
Type Database ID Link
Gene MIM 100725 OMIM
HGNC 1966 HGNC
Ensembl ENSG00000108556 Ensembl
NCBI NCBI
Gene Cards Gene Cards
OncoKB OncoKB
Type Database ID Link
Variant TogoVar
COSMIC
MONDO
Type Database ID Link
Gene MIM 606672 OMIM
HGNC 4439 HGNC
Ensembl ENSG00000185245 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
Likely pathogenic criteria provided, single submitter Bernard-Soulier syndrome, type A2, autosomal dominant unknown Detail
Likely pathogenic 2023-08-01 criteria provided, single submitter GP1BA-related disorder germline Detail
CIViC
[No Data.]
DisGeNET
[No Data.]
Annotation

Annotations

DescrptionSourceLinks
NM_000173.7(GP1BA):c.169A>G (p.Asn57Asp) AND Bernard-Soulier syndrome, type A2, autosomal dominant ClinVar Detail
NM_000173.7(GP1BA):c.169A>G (p.Asn57Asp) AND GP1BA-related disorder 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
rs2151107705 dbSNP
Genome
hg38
Position
chr17:4,932,773-4,932,773
Variant Type
snv
Reference Allele
A
Alternative Allele
G
Genome browser