chr7:50514765:T>C Detail (hg19) (FIGNL1, LOC126860033)

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

Information

Genome

Assembly	Position
hg19	chr7:50,514,765-50,514,765
hg38	chr7:50,447,067-50,447,067 View the variant detail on this assembly version.

HGVS

FIGNL1

Type	Transcript	Protein
RefSeq	NM_001042762.2:c.221A>G	NP_001036227.1:p.Asn74Ser
	NM_022116.4:c.221A>G	NP_071399.2:p.Asn74Ser
	NM_001287492.1:c.221A>G	NP_001274421.1:p.Asn74Ser
	NM_001287493.1:c.221A>G	NP_001274422.1:p.Asn74Ser
	NM_001287494.1:c.221A>G	NP_001274423.1:p.Asn74Ser
	NM_001287496.1:c.221A>G	NP_001274425.1:p.Asn74Ser
	NM_001287495.1:c.221A>G	NP_001274424.1:p.Asn74Ser
Ensemble	ENST00000356889.8:c.221A>G	ENST00000356889.8:p.Asn74Ser
	ENST00000395556.6:c.221A>G	ENST00000395556.6:p.Asn74Ser
	ENST00000419119.1:c.221A>G	ENST00000419119.1:p.Asn74Ser
	ENST00000433017.6:c.221A>G	ENST00000433017.6:p.Asn74Ser
	ENST00000435566.5:c.157-51A>G
	ENST00000615084.4:c.221A>G	ENST00000615084.4:p.Asn74Ser
	ENST00000617389.4:c.221A>G	ENST00000617389.4:p.Asn74Ser

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

FIGNL1

Type	Database	ID	Link
Gene	MIM	615383	OMIM
	HGNC	13286	HGNC
	Ensembl	ENSG00000132436	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	2023-11-06	criteria provided, single submitter	not specified	germline	Detail

CIViC

[No Data.]

DisGeNET

[No Data.]

Annotation

Annotations

Descrption	Source	Links
NM_001287492.4(FIGNL1):c.221A>G (p.Asn74Ser) AND not specified	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: -
Genome: hg19
Position: chr7:50,514,765-50,514,765
Variant Type: snv
Reference Allele: T
Alternative Allele: C
East Asian Chromosome Counts (ExAC): 8652
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): 121298
Allele Counts in All Race (ExAC): 1
Heterozygous Counts in All Race (ExAC): 1
Homozygous Counts in All Race (ExAC): 0
Allele Frequency in All Race (ExAC): 8.244159013339049E-6

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