Variant #0000352727 (NC_000002.11:g.175614855G>A, CHRNA1(NM_001039523.2):c.896C>T)

Chromosome 2
Allele Unknown
Affects function (as reported) Affects function
Affects function (by curator) Not classified
Classification method -
Clinical classification NA
DNA change (genomic) (Relative to hg19 / GRCh37) g.175614855G>A
DNA change (hg38) g.174750127G>A
Published as T254I
ISCN -
DB-ID CHRNA1_000004 See all 3 reported entries
Variant remarks expression cloning human cDNA in Xenopus oocytes 7x prolonged burst duration
Reference PubMed: Croxen 1997
ClinVar ID -
dbSNP ID -
Origin In vitro (cloned)
Segregation -
Frequency -
Re-site -
VIP -
Methylation -
Average frequency (gnomAD v.2.1.1) Retrieve
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 +/. 8 c.896C>T r.(?) p.Thr299Ile