chr10:43609967:C>G Detail (hg19) (RET)

Information

Genome

Assembly Position
hg19 chr10:43,609,967-43,609,967
hg38 chr10:43,114,519-43,114,519 View the variant detail on this assembly version.

HGVS

Type Transcript Protein
RefSeq NM_020630.4:c.1919C>G NP_065681.1:p.Ala640Gly
NM_020975.4:c.1919C>G NP_066124.1:p.Ala640Gly
Ensemble ENST00000713926.1:c.1751-96C>G
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 164761 OMIM
HGNC 9967 HGNC
Ensembl ENSG00000165731 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 1999-10-01 no assertion criteria provided multiple endocrine neoplasia type 2A germline Detail
CIViC
[No Data.]
DisGeNET
Score Disease name Description Source Pubmed Links
0.614 multiple endocrine neoplasia type 2A NA CLINVAR Detail
0.614 multiple endocrine neoplasia type 2A A novel case of multiple endocrine neoplasia type 2A associated with two de novo... UNIPROT 10522989 Detail
Annotation

Annotations

DescrptionSourceLinks
NM_020975.6(RET):c.1919C>G (p.Ala640Gly) AND Multiple endocrine neoplasia type 2A ClinVar Detail
NA DisGeNET Detail
A novel case of multiple endocrine neoplasia type 2A associated with two de novo mutations of the RE... DisGeNET 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
rs78935588 dbSNP
Genome
hg19
Position
chr10:43,609,967-43,609,967
Variant Type
snv
Reference Allele
C
Alternative Allele
G
Genome browser