chr16:56374878:A>G Detail (hg19) (GNAO1)

Information

Genome

Assembly Position
hg19 chr16:56,374,878-56,374,878
hg38 chr16:56,340,966-56,340,966 View the variant detail on this assembly version.

HGVS

Type Transcript Protein
RefSeq NM_020988.2:c.723+4106A>G
NM_138736.2:c.856A>G NP_620073.2:p.Ile286Val
Ensemble ENST00000640469.2:c.723+4106A>G
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 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
Uncertain significance 2019-10-02 criteria provided, single submitter Developmental and epileptic encephalopathy, 17 unknown Detail
CIViC
[No Data.]
DisGeNET
[No Data.]
Annotation

Annotations

DescrptionSourceLinks
NM_020988.3(GNAO1):c.723+4106A>G AND Developmental and epileptic encephalopathy, 17 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
rs1437835350 dbSNP
Genome
hg19
Position
chr16:56,374,878-56,374,878
Variant Type
snv
Reference Allele
A
Alternative Allele
G
Genome browser