Full data view for gene CACNA1F

Information The variants shown are described using the NM_005183.2 transcript reference sequence.

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Effect     

AscendingDNA change (cDNA)     

Protein     

GVS function     

Splice distance     

Position     

Exon     

PolyPhen     

RNA change     

SIFT     

Allele     

Type     

DNA change (genomic) (hg19)     

Published as     

GERP     

Segregation     

DB-ID     

MSCV     

dbSNP ID     

Frequency     

Sources     

Reference     

Variant remarks     

Genetic origin     

Variant_disease     

Date     

Template     

Technique     

Tissue     

Description     

Disease     

Reference     

Gender     

Geographic origin     

Ethnic origin     

Population     

Consanguinity     

Age of death     

Cause of death     

Remarks     

Panel size     

Owner     
+?/. c.4487G>A p.(Gly1496Glu) missense_variant - - 38/48 possibly_damaging(0.679) r.(?) deleterious(0) Unknown subst g.49067081C>T X:g.49067081C>T 5.370 yes CACNA1F_000001 MSCV_0005066 - - MSeqDR User unpublished /publication/ etc This is a test only Germline (inherited) - - DNA SEQ-NG blood - - - M - - - - - - - 1 Xiaowu Gai
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