chr5:161895711:G>A Detail (hg38) (GABRA1)

Information

Genome

Assembly Position
hg19 chr5:161,322,717-161,322,717 View the variant detail on this assembly version.
hg38 chr5:161,895,711-161,895,711

HGVS

Type Transcript Protein
RefSeq NM_000806.5:c.902G>A NP_000797.2:p.Arg301Lys
NM_001127644.1:c.902G>A NP_001121116.1:p.Arg301Lys
NM_001127643.1:c.902G>A NP_001121115.1:p.Arg301Lys
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

[No Data.]

Prediction

ClinVar

Clinical Significance Pathogenic
Review star
Show details
Links
Type Database ID Link
Gene MIM 137160 OMIM
HGNC 4075 HGNC
Ensembl ENSG00000022355 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
Pathogenic 2014-08-12 no assertion criteria provided Developmental and epileptic encephalopathy, 19 de novo Detail
CIViC
[No Data.]
DisGeNET
[No Data.]
Annotation

Annotations

DescrptionSourceLinks
NM_001127644.2(GABRA1):c.902G>A (p.Arg301Lys) AND Developmental and epileptic encephalopathy, 19 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
rs863225292 dbSNP
Genome
hg38
Position
chr5:161,895,711-161,895,711
Variant Type
snv
Reference Allele
G
Alternative Allele
A
Genome browser