chr10:43609949:GC>TG Detail (hg19) (RET)

Information

Genome

Assembly Position
hg19 chr10:43,609,949-43,609,950
hg38 chr10:43,114,501-43,114,502 View the variant detail on this assembly version.

HGVS

Type Transcript Protein
RefSeq NM_020975.4:c.1901_1902delinsTG NP_066124.1:p.Cys634Leu
NM_020630.4:c.1901_1902delinsTG NP_065681.1:p.Cys634Leu
Ensemble ENST00000615310.5:c.1505_1506delinsTG ENST00000615310.5:p.Cys502Leu
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

[No Data.]

Prediction

ClinVar

Clinical Significance
Review star [No Data.]
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
[No Data.]
CIViC
[No Data.]
DisGeNET
Score Disease name Description Source Pubmed Links
0.614 multiple endocrine neoplasia type 2A NA CLINVAR Detail
Annotation

Annotations

DescrptionSourceLinks
NA 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
rs377767409 dbSNP
Genome
hg19
Position
chr10:43,609,949-43,609,950
Variant Type
snv
Reference Allele
GC
Alternative Allele
TG
Genome browser