chr14:36988186:T>C Detail (hg19) (NKX2-1, SFTA3)

Information

Genome

Assembly Position
hg19 chr14:36,988,186-36,988,186
hg38 chr14:36,518,981-36,518,981 View the variant detail on this assembly version.

HGVS

Type Transcript Protein
RefSeq NM_003317.3:c.373+4A>G
NM_001079668.2:c.463+4A>G
Ensemble ENST00000498187.6:c.373+4A>G
Type Transcript Protein
RefSeq
Ensemble ENST00000546983.2:c.373+4A>G
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 600635 OMIM
HGNC 11825 HGNC
Ensembl ENSG00000136352 Ensembl
NCBI NCBI
Gene Cards Gene Cards
OncoKB OncoKB
Type Database ID Link
Variant TogoVar
COSMIC
MONDO
Type Database ID Link
Gene MIM 617860 OMIM
HGNC 18387 HGNC
Ensembl ENSG00000257520 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 2019-01-10 criteria provided, single submitter Thyroid cancer, nonmedullary, 1 unknown Detail
CIViC
[No Data.]
DisGeNET
[No Data.]
Annotation

Annotations

DescrptionSourceLinks
NM_001079668.3(NKX2-1):c.463+4A>G AND Thyroid cancer, nonmedullary, 1 ClinVar Detail

Overlapped Transcript

Gene Transcript ID Chromosome Start Stop Links
Gene
-
dbSNP
rs1881201369 dbSNP
Genome
hg19
Position
chr14:36,988,186-36,988,186
Variant Type
snv
Reference Allele
T
Alternative Allele
C
Genome browser