Variant #0000273550 (NC_000008.10:g.27320946G>A, NM_000742.3:c.1014C>T (CHRNA2))

Chromosome 8
Allele Unknown
Affects function (as reported) Probably does not affect function
Affects function (by curator) Not classified
Classification method -
Clinical classification likely benign
DNA change (genomic) (Relative to hg19 / GRCh37) g.27320946G>A
DNA change (hg38) g.27463429G>A
Published as CHRNA2(NM_000742.3):c.1014C>T (p.F338=)
ISCN -
DB-ID CHRNA2_000007
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) 2.0E-5 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 2018-01-15 20:58:59 +01:00 (CET)
Date last edited 2020-06-23 18:15:20 +02:00 (CEST)
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
CHRNA2 NM_000742.3 -?/. - c.1014C>T r.(?) p.(Phe338=)
PTK2B NM_004103.4 -?/. - c.*4920G>A r.(=) p.(=)


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