Variant #0000281737 (NC_000001.10:g.41284366G>C, NC_000001.10(NM_004700.3):c.708+14G>C (KCNQ4))

Chromosome 1
Allele Unknown
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.41284366G>C
DNA change (hg38) g.40818694G>C
Published as KCNQ4(NM_004700.3):c.708+14G>C, KCNQ4(NM_004700.4):c.708+14G>C
ISCN -
DB-ID KCNQ4_000003 See all 3 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) 0.64271 View details
Owner VKGL-NL_Groningen
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by VKGL-NL_Groningen
Date created 2018-01-15 20:58:59 +01:00 (CET)
Date last edited 2021-09-17 14:40:49 +02:00 (CEST)
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
KCNQ4 NM_004700.3 -/. - c.708+14G>C r.(=) p.(=)


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