Variant #0000182802 (NC_000017.10:g.62048467A>G, NC_000017.10(NM_000334.4):c.703+55T>C (SCN4A))

Individual ID 00112805
Chromosome 17
Allele Parent #1
Affects function (as reported) Does not affect function
Affects function (by curator) Not classified
Classification method -
Clinical classification benign
DNA change (genomic) (Relative to hg19 / GRCh37) g.62048467A>G
DNA change (hg38) g.63971107A>G
Published as -
ISCN -
DB-ID SCN4A_000099
Variant remarks -
Reference -
ClinVar ID -
dbSNP ID rs2302236
Origin Germline
Segregation -
Frequency -
Re-site -
VIP -
Methylation -
Average frequency (gnomAD v.2.1.1) Retrieve
Owner Birgit Neitzel
Database submission license No license selected
Created by Birgit Neitzel
Date created 2009-10-30 18:10:28 +01:00 (CET)
Date last edited 2009-11-05 16:33:43 +01:00 (CET)
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
SCN4A NM_000334.4 -/. 5i c.703+55T>C r.(=) p.(=)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000113263 DNA SEQ - - SCN4A 1 Birgit Neitzel


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