chr11:49186274:G>A Detail (hg19) (FOLH1)
Information
Genome
Assembly | Position |
---|---|
hg19 | chr11:49,186,274-49,186,274 |
hg38 | chr11:49,164,722-49,164,722 View the variant detail on this assembly version. |
HGVS
Type | Transcript | Protein |
---|---|---|
RefSeq | NM_004476.1:c.1423C>T | NP_004467.1:p.His475Tyr |
NM_001014986.1:c.1423C>T | NP_001014986.1:p.His475Tyr | |
NM_001193471.1:c.1378C>T | NP_001180400.1:p.His460Tyr |
Summary
MGeND
Clinical significance | |
Variant entry | |
GWAS entry | |
Disease area statistics | Show details |
Frequency
JP | HGVD:[No Data.] |
ToMMo:[No Data.] | |
NCBN:[No Data.] | |
NCBN(Hondo):[No Data.] | |
NCBN(Ryukyu):[No Data.] | |
East asia | ExAC:<0.001 |
Prediction
ClinVar
Clinical Significance | |
Review star | [No Data.] |
Show details |
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
[No Data.]
CIViC
[No Data.]
DisGeNET
Score | Disease name | Description | Source | Pubmed | Links |
---|---|---|---|---|---|
0.015 | colorectal cancer | We examined whether polymorphisms in these genes, i.e., cSHMT L474F, MTHFD1 R653... | BeFree | 15122597 | Detail |
0.008 | colorectal cancer | We examined whether polymorphisms in these genes, i.e., cSHMT L474F, MTHFD1 R653... | BeFree | 15122597 | Detail |
<0.001 | colorectal carcinoma | We examined whether polymorphisms in these genes, i.e., cSHMT L474F, MTHFD1 R653... | BeFree | 15122597 | Detail |
0.001 | colorectal carcinoma | We examined whether polymorphisms in these genes, i.e., cSHMT L474F, MTHFD1 R653... | BeFree | 15122597 | Detail |
<0.001 | coronary artery disease | To conclude, our data suggests that GCPII H475Y variant shows inverse associatio... | BeFree | 22310383 | Detail |
Annotation
Annotations
Descrption | Source | Links |
---|---|---|
We examined whether polymorphisms in these genes, i.e., cSHMT L474F, MTHFD1 R653Q and GCPII H475Y, m... | DisGeNET | Detail |
We examined whether polymorphisms in these genes, i.e., cSHMT L474F, MTHFD1 R653Q and GCPII H475Y, m... | DisGeNET | Detail |
We examined whether polymorphisms in these genes, i.e., cSHMT L474F, MTHFD1 R653Q and GCPII H475Y, m... | DisGeNET | Detail |
We examined whether polymorphisms in these genes, i.e., cSHMT L474F, MTHFD1 R653Q and GCPII H475Y, m... | DisGeNET | Detail |
To conclude, our data suggests that GCPII H475Y variant shows inverse association with autism and ca... | 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
- -
- Genome
- hg19
- Position
- chr11:49,186,274-49,186,274
- Variant Type
- snv
- Reference Allele
- G
- Alternative Allele
- A
- East Asian Chromosome Counts (ExAC)
- 7596
- East Asian Allele Counts (ExAC)
- 0
- East Asian Heterozygous Counts (ExAC)
- 0
- East Asian Homozygous Counts (ExAC)
- 0
- East Asian Allele Frequency (ExAC)
- 0.0
- Chromosome Counts in All Race (ExAC)
- 99470
- Allele Counts in All Race (ExAC)
- 4406
- Heterozygous Counts in All Race (ExAC)
- 4194
- Homozygous Counts in All Race (ExAC)
- 106
- Allele Frequency in All Race (ExAC)
- 0.04429476223987132
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