chr16:53821379:A>T Detail (hg38) (FTO)

Information

Genome

Assembly Position
hg19 chr16:53,855,291-53,855,291 View the variant detail on this assembly version.
hg38 chr16:53,821,379-53,821,379

HGVS

Type Transcript Protein
RefSeq NM_001080432.2:c.124-4485A>T
Ensemble ENST00000471389.6:c.124-4485A>T
ENST00000636218.1:c.124-4485A>T
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

JP HGVD:[No Data.]
ToMMo:0.672
NCBN:[No Data.]
NCBN(Hondo):[No Data.]
NCBN(Ryukyu):[No Data.]
East asia ExAC:[No Data.]

Prediction

ClinVar

Clinical Significance Benign
Review star
Show details
Links
Type Database ID Link
Gene MIM 610966 OMIM
HGNC 24678 HGNC
Ensembl ENSG00000140718 Ensembl
NCBI NCBI
Gene Cards Gene Cards
OncoKB OncoKB
Type Database ID Link
Variant TogoVar tgv55543100 TogoVar
COSMIC
MONDO
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
Clinical significance Last evaluated Review status Condition Origin Links
Benign 2024-01-29 criteria provided, single submitter not provided germline Detail
CIViC
[No Data.]
DisGeNET
Score Disease name Description Source Pubmed Links
0.122 Malignant neoplasm of breast SNPs at four loci, 1q32.1 (MDM4, P = 2.1 × 10(-12) and LGR6, P = 1.4 × 10(-8)), ... GWASCAT 23535733 Detail
0.240 Malignant neoplasm of breast Of the four breast cancer subtypes, the associations of rs12493607 (3p24.1/TGFBR... BeFree 25007960 Detail
0.080 breast carcinoma Of the four breast cancer subtypes, the associations of rs12493607 (3p24.1/TGFBR... BeFree 25007960 Detail
Annotation

Annotations

DescrptionSourceLinks
NM_001080432.3(FTO):c.124-4485A>T AND not provided ClinVar Detail
SNPs at four loci, 1q32.1 (MDM4, P = 2.1 × 10(-12) and LGR6, P = 1.4 × 10(-8)), 2p24.1 (P = 4.6 × 10... DisGeNET Detail
Of the four breast cancer subtypes, the associations of rs12493607 (3p24.1/TGFBR2) with HER-2 overex... DisGeNET Detail
Of the four breast cancer subtypes, the associations of rs12493607 (3p24.1/TGFBR2) with HER-2 overex... DisGeNET Detail

Overlapped Transcript

Gene Transcript ID Chromosome Start Stop Links
Gene
-
dbSNP
rs11075995 dbSNP
Genome
hg38
Position
chr16:53,821,379-53,821,379
Variant Type
snv
Reference Allele
A
Alternative Allele
T
ToMMo VCF FILTER column value (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
PASS
Total VCF ID column value (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
rs11075995
Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
0.6718
Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
11260
Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
16760
Genome browser