chr16:56336862:T>A Detail (hg38) (GNAO1)

Information

Genome

Assembly Position
hg19 chr16:56,370,774-56,370,774 View the variant detail on this assembly version.
hg38 chr16:56,336,862-56,336,862

HGVS

Type Transcript Protein
RefSeq NM_020988.2:c.723+2T>A
NM_138736.2:c.723+2T>A
Ensemble ENST00000262493.12:c.723+2T>A
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 139311 OMIM
HGNC 4389 HGNC
Ensembl ENSG00000087258 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 2021-06-02 no assertion criteria provided neurodevelopmental disorder with involuntary movements de novo Detail
CIViC
[No Data.]
DisGeNET
[No Data.]
Annotation

Annotations

DescrptionSourceLinks
NM_020988.3(GNAO1):c.723+2T>A AND Neurodevelopmental disorder with involuntary movements ClinVar Detail

Overlapped Transcript

Gene Transcript ID Chromosome Start Stop Links
Gene
-
dbSNP
rs2143665312 dbSNP
Genome
hg38
Position
chr16:56,336,862-56,336,862
Variant Type
snv
Reference Allele
T
Alternative Allele
A
Genome browser