chr10:43120192:A>G Detail (hg38) (RET)

Information

Genome

Assembly Position
hg19 chr10:43,615,640-43,615,640 View the variant detail on this assembly version.
hg38 chr10:43,120,192-43,120,192

HGVS

Type Transcript Protein
RefSeq NM_020630.4:c.2719A>G NP_065681.1:p.Lys907Glu
NM_020975.4:c.2719A>G NP_066124.1:p.Lys907Glu
Ensemble ENST00000340058.6:c.2719A>G ENST00000340058.6:p.Lys907Glu
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
0.605 pheochromocytoma Here, we report that one mutation affecting the extracytoplasmic cadherin domain... BeFree 9502784 Detail
Annotation

Annotations

DescrptionSourceLinks
Here, we report that one mutation affecting the extracytoplasmic cadherin domain (R231H) and two mut... 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
rs377767430 dbSNP
Genome
hg38
Position
chr10:43,120,192-43,120,192
Variant Type
snv
Reference Allele
A
Alternative Allele
G
Genome browser