chr10:43123701:C>G Detail (hg38) (RET)

Information

Genome

Assembly Position
hg19 chr10:43,619,149-43,619,149 View the variant detail on this assembly version.
hg38 chr10:43,123,701-43,123,701

HGVS

Type Transcript Protein
RefSeq NM_020630.4:c.2832C>G NP_065681.1:p.Ile944Met
NM_020975.4:c.2832C>G NP_066124.1:p.Ile944Met
Ensemble ENST00000340058.6:c.2832C>G ENST00000340058.6:p.Ile944Met
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 164761 OMIM
HGNC 9967 HGNC
Ensembl ENSG00000165731 Ensembl
NCBI NCBI
Gene Cards Gene Cards
OncoKB OncoKB
Type Database ID Link
Variant TogoVar
COSMIC COSM1675176 COSMIC
MONDO
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
Clinical significance Last evaluated Review status Condition Origin Links
Pathogenic 2016-06-15 criteria provided, single submitter Medullary thyroid carcinoma germline Detail
Uncertain significance 2022-09-21 criteria provided, single submitter Multiple endocrine neoplasia, type 2 germline Detail
Uncertain significance 2023-12-01 criteria provided, single submitter not provided germline Detail
CIViC
[No Data.]
DisGeNET
[No Data.]
Annotation

Annotations

DescrptionSourceLinks
NM_020975.4(RET):c.[2410G>A;2832C>G] AND Medullary thyroid carcinoma ClinVar Detail
NM_020975.6(RET):c.2832C>G (p.Ile944Met) AND Multiple endocrine neoplasia, type 2 ClinVar Detail
NM_020975.6(RET):c.2832C>G (p.Ile944Met) AND not provided 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
rs755606269 dbSNP
Genome
hg38
Position
chr10:43,123,701-43,123,701
Variant Type
snv
Reference Allele
C
Alternative Allele
G
Genome browser