chr14:64909151:G>A Detail (hg19) (MTHFD1)

Information

Genome

Assembly Position
hg19 chr14:64,909,151-64,909,151
hg38 chr14:64,442,433-64,442,433 View the variant detail on this assembly version.

HGVS

Type Transcript Protein
RefSeq
Ensemble ENST00000554768.6:c.1893+31G>A
ENST00000697174.1:c.1887+31G>A
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

JP HGVD:[No Data.]
ToMMo:0.308
NCBN:[No Data.]
NCBN(Hondo):[No Data.]
NCBN(Ryukyu):[No Data.]
East asia ExAC:0.293

Prediction

ClinVar

Clinical Significance Benign
Review star
Show details
Links
Type Database ID Link
Gene MIM 172460 OMIM
HGNC 7432 HGNC
Ensembl ENSG00000100714 Ensembl
NCBI NCBI
Gene Cards Gene Cards
OncoKB OncoKB
Type Database ID Link
Variant TogoVar tgv51074676 TogoVar
COSMIC
MONDO
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
Clinical significance Last evaluated Review status Condition Origin Links
Benign 2021-09-05 criteria provided, single submitter Combined immunodeficiency and megaloblastic anemia with or without hyperhomocysteinemia germline Detail
CIViC
[No Data.]
DisGeNET
Score Disease name Description Source Pubmed Links
0.020 spina bifida With respect to spina bifida, we observed ORs with 95% confidence intervals that... BeFree 19493349 Detail
0.010 spina bifida With respect to spina bifida, we observed ORs with 95% confidence intervals that... BeFree 19493349 Detail
0.008 spina bifida With respect to spina bifida, we observed ORs with 95% confidence intervals that... BeFree 19493349 Detail
0.005 spina bifida With respect to spina bifida, we observed ORs with 95% confidence intervals that... BeFree 19493349 Detail
<0.001 spina bifida With respect to spina bifida, we observed ORs with 95% confidence intervals that... BeFree 19493349 Detail
Annotation

Annotations

DescrptionSourceLinks
NM_005956.4(MTHFD1):c.2136+31G>A AND Combined immunodeficiency and megaloblastic anemia with or with... ClinVar Detail
With respect to spina bifida, we observed ORs with 95% confidence intervals that did not include 1.0... DisGeNET Detail
With respect to spina bifida, we observed ORs with 95% confidence intervals that did not include 1.0... DisGeNET Detail
With respect to spina bifida, we observed ORs with 95% confidence intervals that did not include 1.0... DisGeNET Detail
With respect to spina bifida, we observed ORs with 95% confidence intervals that did not include 1.0... DisGeNET Detail
With respect to spina bifida, we observed ORs with 95% confidence intervals that did not include 1.0... DisGeNET Detail

Overlapped Transcript

Gene Transcript ID Chromosome Start Stop Links
Gene
-
dbSNP
rs2236224 dbSNP
Genome
hg19
Position
chr14:64,909,151-64,909,151
Variant Type
snv
Reference Allele
G
Alternative Allele
A
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))
rs2236224
Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
0.3082
Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
5165
Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
16760
East Asian Chromosome Counts (ExAC)
8540
East Asian Allele Counts (ExAC)
2504
East Asian Heterozygous Counts (ExAC)
1828
East Asian Homozygous Counts (ExAC)
338
East Asian Allele Frequency (ExAC)
0.29320843091334897
Chromosome Counts in All Race (ExAC)
120446
Allele Counts in All Race (ExAC)
46445
Heterozygous Counts in All Race (ExAC)
27365
Homozygous Counts in All Race (ExAC)
9540
Allele Frequency in All Race (ExAC)
0.38560848845125617
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