chr14:95574017:C>G Detail (hg19) (DICER1)

Information

Genome

Assembly Position
hg19 chr14:95,574,017-95,574,017
hg38 chr14:95,107,680-95,107,680 View the variant detail on this assembly version.

HGVS

Type Transcript Protein
RefSeq NM_001271282.2:c.2732G>C NP_001258211.1:p.Ser911Thr
NM_177438.2:c.2732G>C NP_803187.1:p.Ser911Thr
NM_001195573.1:c.2732G>C NP_001182502.1:p.Ser911Thr
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 606241 OMIM
HGNC 17098 HGNC
Ensembl ENSG00000100697 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
Uncertain significance 2022-05-05 criteria provided, single submitter DICER1-related tumor predisposition germline Detail
CIViC
[No Data.]
DisGeNET
[No Data.]
Annotation

Annotations

DescrptionSourceLinks
NM_177438.3(DICER1):c.2732G>C (p.Ser911Thr) AND DICER1-related tumor predisposition 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
-
Genome
hg19
Position
chr14:95,574,017-95,574,017
Variant Type
snv
Reference Allele
C
Alternative Allele
G
Genome browser