Variant #0001649466 (NC_000016.9:g.2374467C>T, NM_001089.2:c.385G>A (ABCA3))

Individual ID 00000057
Chromosome 16
Allele Unknown
Affects function (as reported) Not classified
Affects function (by curator) Not classified
DNA change (genomic) (Relative to hg19 / GRCh37) g.2374467C>T
Reference -
DB-ID ABCA3_000067
Frequency -
Variant remarks -
Average frequency (gnomAD v.2.1.1) 0.00015 View details
Owner LOVD
Database submission license No license selected
Created by LOVD
Date created 2016-08-25 03:15:45 +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.385G>A 385 r.(?) p.(Val129Met) - missense -



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Genes screened     

Variants found     

Owner     
0000000069 DNA SEQ-NG - - 51170 LOVD