Variant #0001193684 (NC_000016.9:g.2358651C>T, NC_000016.9(NM_001089.2):c.1112-27G>A (ABCA3))

Individual ID 00000048
Chromosome 16
Allele Unknown
Affects function (as reported) Not classified
Affects function (by curator) Not classified
DNA change (genomic) (Relative to hg19 / GRCh37) g.2358651C>T
Reference -
DB-ID ABCA3_000057
Frequency -
Variant remarks -
Average frequency (gnomAD v.2.1.1) 0.00011 View details
Owner LOVD
Database submission license No license selected
Created by LOVD
Date created 2016-08-24 23:12:11 +02:00 (CEST)
Date last edited N/A
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

Position     

RNA change     

Protein     

PolyPhen prediction     

GVS function     

Splice distance     
ABCA3 NM_001089.2 ./. - c.1112-27G>A 1112 r.(=) p.(=) - intron 27



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Genes screened     

Variants found     

Owner     
0000000060 DNA SEQ-NG - - 51327 LOVD