chr12:57626574:A>G Detail (hg19) (SHMT2)

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

Genome

Assembly	Position
hg19	chr12:57,626,574-57,626,574
hg38	chr12:57,232,791-57,232,791 View the variant detail on this assembly version.

HGVS

SHMT2

Type	Transcript	Protein
RefSeq	NM_001166357.1:c.742A>G	NP_001159829.1:p.Lys248Glu
	NM_001166356.1:c.805A>G	NP_001159828.1:p.Lys269Glu
	NM_005412.5:c.805A>G	NP_005403.2:p.Lys269Glu
	NM_001166359.1:c.742A>G	NP_001159831.1:p.Lys248Glu
	NM_001166358.1:c.742A>G	NP_001159830.1:p.Lys248Glu
Ensemble	ENST00000449049.7:c.742A>G	ENST00000449049.7:p.Lys248Glu
	ENST00000328923.8:c.805A>G	ENST00000328923.8:p.Lys269Glu
	ENST00000557487.5:c.775A>G	ENST00000557487.5:p.Lys259Glu
	ENST00000553474.5:c.742A>G	ENST00000553474.5:p.Lys248Glu
	ENST00000414700.7:c.742A>G	ENST00000414700.7:p.Lys248Glu

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

SHMT2

Type	Database	ID	Link
Gene	MIM	138450	OMIM
	HGNC	10852	HGNC
	Ensembl	ENSG00000182199	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
<0.001	Cancer of Head and Neck	We conducted a case-control study (265 HNSCC cases and 466 non-cancer controls) ...	BeFree	22051736	Detail
0.003	Cancer of Head and Neck	We conducted a case-control study (265 HNSCC cases and 466 non-cancer controls) ...	BeFree	22051736	Detail

Annotation

Annotations

Descrption	Source	Links
We conducted a case-control study (265 HNSCC cases and 466 non-cancer controls) to investigate assoc...	DisGeNET	Detail
We conducted a case-control study (265 HNSCC cases and 466 non-cancer controls) to investigate assoc...	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: chr12:57,626,574-57,626,574
Variant Type: snv
Reference Allele: A
Alternative Allele: G
East Asian Chromosome Counts (ExAC): 8630
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): 120952
Allele Counts in All Race (ExAC): 2
Heterozygous Counts in All Race (ExAC): 2
Homozygous Counts in All Race (ExAC): 0
Allele Frequency in All Race (ExAC): 1.6535485151134334E-5

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