chr19:40762959:C>T Detail (hg19) (AKT2)

Information

Genome

Assembly Position
hg19 chr19:40,762,959-40,762,959
hg38 chr19:40,257,052-40,257,052 View the variant detail on this assembly version.

HGVS

Type Transcript Protein
RefSeq NM_001243027.2:c.49G>A NP_001229956.1:p.Glu17Lys
NM_001243028.2:c.49G>A NP_001229957.1:p.Glu17Lys
NM_001626.5:c.49G>A NP_001617.1:p.Glu17Lys
Summary

MGeND

Clinical significance not provided
Variant entry 2
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 164731 OMIM
HGNC 392 HGNC
Ensembl ENSG00000105221 Ensembl
NCBI NCBI
Gene Cards Gene Cards
OncoKB OncoKB
Type Database ID Link
Variant TogoVar
COSMIC COSM159009 COSMIC
MONDO
Disease area statistics
MGeND
Clinical significance Last evaluated Condition Origin Submission ID Submitter Institute Citation Comment Image
not provided Thymic carcinoma somatic MGS000018
(TMGS000110) 		Hitoshi Nakagama National Cancer Center Japan 30742731
not provided bronchus or lung, unspecified not provided MGS000042
(TMGS000093) 		Hitoshi Nakagama National Cancer Center Japan
ClinVar
Clinical significance Last evaluated Review status Condition Origin Links
Pathogenic 2020-06-07 no assertion criteria provided Hypoinsulinemic hypoglycemia and body hemihypertrophy germline Detail
CIViC
[No Data.]
DisGeNET
[No Data.]
Annotation

Annotations

DescrptionSourceLinks
NM_001626.6(AKT2):c.49G>A (p.Glu17Lys) AND Hypoinsulinemic hypoglycemia and body hemihypertrophy 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
rs387906659 dbSNP
Genome
hg19
Position
chr19:40,762,959-40,762,959
Variant Type
snv
Reference Allele
C
Alternative Allele
T
Genome browser