Variant #0000367733 (NC_000002.11:g.175614924_175614925del, NC_000002.11(NM_001039523.2):c.854-13_854-12del (CHRNA1))

Individual ID 00163650
Chromosome 2
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.175614924_175614925del
DNA change (hg38) g.174750196_174750197del
Published as 854-13_854-12delTT
ISCN -
DB-ID CHRNA1_000047 See all 4 reported entries
Variant remarks -
Reference -
ClinVar ID -
dbSNP ID rs139930312
Origin Unknown
Segregation ?
Frequency 0.5 controls
Re-site -
VIP -
Methylation -
Average frequency (gnomAD v.2.1.1) Retrieve
Owner Florian Erger
Database submission license No license selected
Created by Florian Erger
Date created 2018-04-03 17:14:09 +02:00 (CEST)
Date last edited 2020-06-09 19:30:36 +02:00 (CEST)
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
CHRNA1 NM_001039523.2 -/. - c.854-13_854-12del r.(=) p.(=)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000164515 DNA SEQ-NG-I Umbilical cord - CHRNA1, CHRNB1, CHRND, CHRNE, CHRNG, CNTN1, DOK7, KLHL40, MTM1, MUSK, NALCN, RAPSN, UBA1 26 Florian Erger


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