chr11:49156734:G>A Detail (hg38) (FOLH1)

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Summary
Information
Links
Disease area statistics
MGeND
ClinVar
CIViC
DisGeNET
Annotation
Genome browser

Information

Genome

Assembly	Position
hg19	chr11:49,178,286-49,178,286 View the variant detail on this assembly version.
hg38	chr11:49,156,734-49,156,734

HGVS

FOLH1

Type	Transcript	Protein
RefSeq	NM_004476.1:c.1606C>T	NP_004467.1:p.Arg536Trp
	NM_001193471.1:c.1561C>T	NP_001180400.1:p.Arg521Trp
	NM_001193472.1:c.1561C>T	NP_001180401.1:p.Arg521Trp
	NM_001014986.1:c.1606C>T	NP_001014986.1:p.Arg536Trp
Ensemble	ENST00000256999.7:c.1606C>T	ENST00000256999.7:p.Arg536Trp
	ENST00000340334.11:c.1561C>T	ENST00000340334.11:p.Arg521Trp
	ENST00000356696.7:c.1606C>T	ENST00000356696.7:p.Arg536Trp
	ENST00000533034.1:c.1561C>T	ENST00000533034.1:p.Arg521Trp

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	Uncertain significance
Review star
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

Clinical significance	Last evaluated	Review status	Condition	Origin	Links
Uncertain significance	2023-11-21	criteria provided, single submitter	not specified	germline	Detail

CIViC

[No Data.]

DisGeNET

Score	Disease name	Description	Source	Pubmed	Links
<0.001	coronary artery disease	Hyperhomocysteinemia, C677T MTHFR and C1561T GCPII are risk factors for CAD.	BeFree	19394322	Detail
<0.001	coronary artery disease	GCPII C1561T polymorphism was found to be an independent risk factor (OR 2.71, 9...	BeFree	22147344	Detail
0.003	coronary artery disease	In view of growing body of evidence favouring the association of aberrations in ...	BeFree	22147344	Detail
0.003	Acute lymphocytic leukemia	Children with ALL (n = 96) were screened for GCPII C1561T, RFC1 G80A, cSHMT C142...	BeFree	22838948	Detail
<0.001	Precursor Cell Lymphoblastic Leukemia Lymphoma	Children with ALL (n = 96) were screened for GCPII C1561T, RFC1 G80A, cSHMT C142...	BeFree	22838948	Detail
0.010	Precursor Cell Lymphoblastic Leukemia Lymphoma	Children with ALL (n = 96) were screened for GCPII C1561T, RFC1 G80A, cSHMT C142...	BeFree	22838948	Detail
0.232	Precursor Cell Lymphoblastic Leukemia Lymphoma	Children with ALL (n = 96) were screened for GCPII C1561T, RFC1 G80A, cSHMT C142...	BeFree	22838948	Detail
0.004	Acute lymphocytic leukemia	Children with ALL (n = 96) were screened for GCPII C1561T, RFC1 G80A, cSHMT C142...	BeFree	22838948	Detail
<0.001	Acute lymphocytic leukemia	Children with ALL (n = 96) were screened for GCPII C1561T, RFC1 G80A, cSHMT C142...	BeFree	22838948	Detail
0.016	Acute lymphocytic leukemia	Children with ALL (n = 96) were screened for GCPII C1561T, RFC1 G80A, cSHMT C142...	BeFree	22838948	Detail
0.022	Precursor Cell Lymphoblastic Leukemia Lymphoma	Children with ALL (n = 96) were screened for GCPII C1561T, RFC1 G80A, cSHMT C142...	BeFree	22838948	Detail
0.132	Precursor Cell Lymphoblastic Leukemia Lymphoma	Children with ALL (n = 96) were screened for GCPII C1561T, RFC1 G80A, cSHMT C142...	BeFree	22838948	Detail
<0.001	Acute lymphocytic leukemia	Children with ALL (n = 96) were screened for GCPII C1561T, RFC1 G80A, cSHMT C142...	BeFree	22838948	Detail

Annotation

Annotations

Descrption	Source	Links
NM_004476.3(FOLH1):c.1606C>T (p.Arg536Trp) AND not specified	ClinVar	Detail
Hyperhomocysteinemia, C677T MTHFR and C1561T GCPII are risk factors for CAD.	DisGeNET	Detail
GCPII C1561T polymorphism was found to be an independent risk factor (OR 2.71, 95% CI 1.47-4.98) for...	DisGeNET	Detail
In view of growing body of evidence favouring the association of aberrations in one-carbon metabolis...	DisGeNET	Detail
Children with ALL (n = 96) were screened for GCPII C1561T, RFC1 G80A, cSHMT C1420T, TYMS 5´-UTR 2R3R...	DisGeNET	Detail
Children with ALL (n = 96) were screened for GCPII C1561T, RFC1 G80A, cSHMT C1420T, TYMS 5´-UTR 2R3R...	DisGeNET	Detail
Children with ALL (n = 96) were screened for GCPII C1561T, RFC1 G80A, cSHMT C1420T, TYMS 5´-UTR 2R3R...	DisGeNET	Detail
Children with ALL (n = 96) were screened for GCPII C1561T, RFC1 G80A, cSHMT C1420T, TYMS 5´-UTR 2R3R...	DisGeNET	Detail
Children with ALL (n = 96) were screened for GCPII C1561T, RFC1 G80A, cSHMT C1420T, TYMS 5´-UTR 2R3R...	DisGeNET	Detail
Children with ALL (n = 96) were screened for GCPII C1561T, RFC1 G80A, cSHMT C1420T, TYMS 5´-UTR 2R3R...	DisGeNET	Detail
Children with ALL (n = 96) were screened for GCPII C1561T, RFC1 G80A, cSHMT C1420T, TYMS 5´-UTR 2R3R...	DisGeNET	Detail
Children with ALL (n = 96) were screened for GCPII C1561T, RFC1 G80A, cSHMT C1420T, TYMS 5´-UTR 2R3R...	DisGeNET	Detail
Children with ALL (n = 96) were screened for GCPII C1561T, RFC1 G80A, cSHMT C1420T, TYMS 5´-UTR 2R3R...	DisGeNET	Detail
Children with ALL (n = 96) were screened for GCPII C1561T, RFC1 G80A, cSHMT C1420T, TYMS 5´-UTR 2R3R...	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: hg38
Position: chr11:49,156,734-49,156,734
Variant Type: snv
Reference Allele: G
Alternative Allele: A
East Asian Chromosome Counts (ExAC): 8642
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): 120958
Allele Counts in All Race (ExAC): 4
Heterozygous Counts in All Race (ExAC): 4
Homozygous Counts in All Race (ExAC): 0
Allele Frequency in All Race (ExAC): 3.306932985003059E-5

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