Variant #0000352726 (NC_000002.11:g.175618961C>T, CHRNA1(NM_001039523.2):c.601G>A)

Chromosome 2
Allele Unknown
Affects function (as reported) Probably affects function
Affects function (by curator) Not classified
Classification method -
Clinical classification NA
DNA change (genomic) (Relative to hg19 / GRCh37) g.175618961C>T
DNA change (hg38) g.174754233C>T
Published as V156M
ISCN -
DB-ID CHRNA1_000003 See all 2 reported entries
Variant remarks expression cloning human cDNA in Xenopus oocytes 3x prolonged burst duration
Reference PubMed: Croxen 1997
ClinVar ID -
dbSNP ID -
Origin In vitro (cloned)
Segregation -
Frequency -
Re-site -
VIP 0
Methylation -
Average frequency (gnomAD v.2.1.1) 2.0E-5 View details
Owner Johan den Dunnen
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by Johan den Dunnen
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
CHRNA1 NM_001039523.2 +?/. 6 c.601G>A r.(?) p.Val201Met