Variant #0000719398 (NC_000003.11:g.38674719C>T, NM_198056.2:c.80G>A (SCN5A))

Chromosome 3
Allele Unknown
Affects function (as reported) Effect unknown
Affects function (by curator) Not classified
Classification method -
Clinical classification VUS
DNA change (genomic) (Relative to hg19 / GRCh37) g.38674719C>T
DNA change (hg38) -
Published as SCN5A(NM_001099404.1):c.80G>A (p.R27H), SCN5A(NM_198056.3):c.80G>A (p.R27H)
ISCN -
DB-ID SCN5A_000664 See all 4 reported entries
Variant remarks VKGL data sharing initiative Nederland
Reference -
ClinVar ID -
dbSNP ID -
Origin CLASSIFICATION record
Segregation -
Frequency -
Re-site -
VIP -
Methylation -
Average frequency (gnomAD v.2.1.1) 0.00025 View details
Owner VKGL-NL_Rotterdam
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by VKGL-NL_Rotterdam
Date created 2021-02-08 18:36:18 +01:00 (CET)
Date last edited 2024-04-19 20:27:30 +02:00 (CEST)
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
SCN5A NM_198056.2 ?/. - c.80G>A r.(?) p.(Arg27His)


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