chr1:11848068:G>C Detail (hg19) (MTHFR, C1orf167)

Information

Genome

Assembly Position
hg19 chr1:11,848,068-11,848,068
hg38 chr1:11,788,011-11,788,011 View the variant detail on this assembly version.

HGVS

Type Transcript Protein
RefSeq NM_001010881.1:c.3326G>C NP_001010881.1:p.Cys1109Ser
Ensemble ENST00000433342.6:c.3326G>C ENST00000433342.6:p.Cys1109Ser
ENST00000688073.1:c.3812G>C ENST00000688073.1:p.Cys1271Ser
Type Transcript Protein
RefSeq NM_005957.4:c.*2669C>G
Ensemble ENST00000376583.7:c.*2669C>G
ENST00000376585.6:c.*2669C>G
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

JP HGVD:[No Data.]
ToMMo:0.091
NCBN:[No Data.]
NCBN(Hondo):[No Data.]
NCBN(Ryukyu):[No Data.]
East asia ExAC:0.149

Prediction

ClinVar

Clinical Significance
Review star [No Data.]
Show details
Links
Type Database ID Link
Gene MIM
HGNC 25262 HGNC
Ensembl ENSG00000215910 Ensembl
NCBI NCBI
Gene Cards Gene Cards
OncoKB OncoKB
Type Database ID Link
Variant TogoVar tgv379839 TogoVar
COSMIC
MONDO
Type Database ID Link
Gene MIM 607093 OMIM
HGNC 7436 HGNC
Ensembl ENSG00000177000 Ensembl
NCBI NCBI
Gene Cards Gene Cards
OncoKB OncoKB
Type Database ID Link
Variant TogoVar tgv379839 TogoVar
COSMIC
MONDO
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
[No Data.]
CIViC
[No Data.]
DisGeNET
Score Disease name Description Source Pubmed Links
0.021 breast carcinoma We found three single-nucleotide polymorphisms in those genes associated with LI... BeFree 24130171 Detail
0.006 Malignant neoplasm of breast We found three single-nucleotide polymorphisms in those genes associated with LI... BeFree 24130171 Detail
0.101 Malignant neoplasm of breast We found three single-nucleotide polymorphisms in those genes associated with LI... BeFree 24130171 Detail
0.003 breast carcinoma We found three single-nucleotide polymorphisms in those genes associated with LI... BeFree 24130171 Detail
0.003 breast carcinoma We found three single-nucleotide polymorphisms in those genes associated with LI... BeFree 24130171 Detail
0.017 Malignant neoplasm of breast We found three single-nucleotide polymorphisms in those genes associated with LI... BeFree 24130171 Detail
Annotation

Annotations

DescrptionSourceLinks
We found three single-nucleotide polymorphisms in those genes associated with LINE-1 methylation: SL... DisGeNET Detail
We found three single-nucleotide polymorphisms in those genes associated with LINE-1 methylation: SL... DisGeNET Detail
We found three single-nucleotide polymorphisms in those genes associated with LINE-1 methylation: SL... DisGeNET Detail
We found three single-nucleotide polymorphisms in those genes associated with LINE-1 methylation: SL... DisGeNET Detail
We found three single-nucleotide polymorphisms in those genes associated with LINE-1 methylation: SL... DisGeNET Detail
We found three single-nucleotide polymorphisms in those genes associated with LINE-1 methylation: SL... DisGeNET 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
rs1537514 dbSNP
Genome
hg19
Position
chr1:11,848,068-11,848,068
Variant Type
snv
Reference Allele
G
Alternative Allele
C
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))
rs1537514
Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
0.091
Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
1525
Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
16760
East Asian Chromosome Counts (ExAC)
482
East Asian Allele Counts (ExAC)
72
East Asian Heterozygous Counts (ExAC)
54
East Asian Homozygous Counts (ExAC)
9
East Asian Allele Frequency (ExAC)
0.14937759336099585
Chromosome Counts in All Race (ExAC)
14952
Allele Counts in All Race (ExAC)
1959
Heterozygous Counts in All Race (ExAC)
1645
Homozygous Counts in All Race (ExAC)
157
Allele Frequency in All Race (ExAC)
0.13101926163723918
Genome browser