chrX:49072898:A>C Detail (hg19) (CACNA1F)

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

Genome

Assembly	Position
hg19	chrX:49,072,898-49,072,898
hg38	chrX:49,216,438-49,216,438 View the variant detail on this assembly version.

HGVS

CACNA1F

Type	Transcript	Protein
RefSeq	NM_001256789.2:c.3180T>G	NP_001243718.1:p.Asn1060Lys
	NM_001256790.2:c.3018T>G	NP_001243719.1:p.Asn1006Lys
	NM_005183.3:c.3213T>G	NP_005174.2:p.Asn1071Lys
Ensemble	ENST00000323022.10:c.3180T>G	ENST00000323022.10:p.Asn1060Lys
	ENST00000376251.5:c.3018T>G	ENST00000376251.5:p.Asn1006Lys
	ENST00000376265.2:c.3213T>G	ENST00000376265.2:p.Asn1071Lys

Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics	Show details

Frequency

[No Data.]

Prediction

ClinVar

Clinical Significance	Likely pathogenic
Review star
Show details

Links

CACNA1F

Type	Database	ID	Link
Gene	MIM	300110	OMIM
	HGNC	1393	HGNC
	Ensembl	ENSG00000102001	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
Likely pathogenic	2015-01-01	no assertion criteria provided	congenital stationary night blindness	unknown	Detail

CIViC

[No Data.]

DisGeNET

[No Data.]

Annotation

Annotations

Descrption	Source	Links
NM_001256789.3(CACNA1F):c.3180T>G (p.Asn1060Lys) AND Congenital stationary night blindness	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: rs1557107417 dbSNP
Genome: hg19
Position: chrX:49,072,898-49,072,898
Variant Type: snv
Reference Allele: A
Alternative Allele: C

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