chr11:49186274:G>A Detail (hg19) (FOLH1)

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Summary
Information
Links
Disease area statistics
MGeND
ClinVar
CIViC
DisGeNET
Annotation
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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

FOLH1

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
	NM_001193472.1:c.1378C>T	NP_001180401.1:p.His460Tyr
Ensemble	ENST00000533034.1:c.1378C>T	ENST00000533034.1:p.His460Tyr
	ENST00000256999.7:c.1423C>T	ENST00000256999.7:p.His475Tyr
	ENST00000356696.7:c.1423C>T	ENST00000356696.7:p.His475Tyr
	ENST00000340334.11:c.1378C>T	ENST00000340334.11: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

Links

FOLH1

Type	Database	ID	Link
Gene	MIM	600934	OMIM
	HGNC	3788	HGNC
	Ensembl	ENSG00000086205	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

[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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