chr9:95150013:A>G Detail (hg38) (FANCC, AOPEP)

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

Genome

Assembly	Position
hg19	chr9:97,912,295-97,912,295 View the variant detail on this assembly version.
hg38	chr9:95,150,013-95,150,013

HGVS

FANCC

Type	Transcript	Protein
RefSeq	NM_000136.2:c.596T>C	NP_000127.2:p.Leu199Pro
	NM_001243743.1:c.596T>C	NP_001230672.1:p.Leu199Pro
	NM_001243744.1:c.596T>C	NP_001230673.1:p.Leu199Pro
Ensemble	ENST00000289081.8:c.596T>C	ENST00000289081.8:p.Leu199Pro
	ENST00000375305.6:c.596T>C	ENST00000375305.6:p.Leu199Pro
	ENST00000490972.7:c.596T>C	ENST00000490972.7:p.Leu199Pro

Summary

MGeND

Clinical significance	Uncertain significance
Variant entry	1
GWAS entry
Disease area statistics	Show details

Frequency

[No Data.]

Prediction

ClinVar

Clinical Significance	Uncertain significance
Review star
Show details

Links

FANCC

Type	Database	ID	Link
Gene	MIM	613899	OMIM
	HGNC	3584	HGNC
	Ensembl	ENSG00000158169	Ensembl
	NCBI		NCBI
	Gene Cards		Gene Cards
	OncoKB		OncoKB

Type	Database	ID	Link
Variant	TogoVar
	COSMIC
	MONDO

Disease area statistics

MGeND

Clinical significance	Last evaluated	Condition	Origin	Submission ID	Submitter	Institute	Citation	Comment	Image
Uncertain significance	2021/08/13	heart	germline	MGS000029 (TMGS000133)	Hitoshi Nakagama	National Cancer Center Japan

ClinVar

Clinical significance	Last evaluated	Review status	Condition	Origin	Links
Uncertain significance	2022-09-01	criteria provided, single submitter	Fanconi anemia	germline	Detail
Uncertain significance	2020-09-16	no assertion criteria provided	Fanconi anemia complementation group C	germline	Detail
Uncertain significance	2021-12-12	criteria provided, single submitter	Hereditary cancer-predisposing syndrome	germline	Detail

CIViC

[No Data.]

DisGeNET

[No Data.]

Annotation

Annotations

Descrption	Source	Links
NM_000136.3(FANCC):c.596T>C (p.Leu199Pro) AND Fanconi anemia	ClinVar	Detail
NM_000136.3(FANCC):c.596T>C (p.Leu199Pro) AND Fanconi anemia complementation group C	ClinVar	Detail
NM_000136.3(FANCC):c.596T>C (p.Leu199Pro) AND Hereditary cancer-predisposing syndrome	ClinVar	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: rs143213659 dbSNP
Genome: hg38
Position: chr9:95,150,013-95,150,013
Variant Type: snv
Reference Allele: A
Alternative Allele: G

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