Variant #0000657790 (NC_000016.9:g.2334358T>C, NM_001089.2:c.3784A>G (ABCA3))

Chromosome 16
Allele Unknown
Affects function (as reported) Probably does not affect function
Affects function (by curator) Not classified
Classification method -
Clinical classification likely benign
DNA change (genomic) (Relative to hg19 / GRCh37) g.2334358T>C
DNA change (hg38) g.2284357T>C
Published as ABCA3(NM_001089.2):c.3784A>G (p.S1262G, p.(Ser1262Gly))
ISCN -
DB-ID ABCA3_000019 See all 3 reported entries
Variant remarks VKGL data sharing initiative Nederland
Reference -
ClinVar ID -
dbSNP ID -
Origin CLASSIFICATION record
Segregation -
Frequency -
Re-site -
VIP -
Methylation -
Average frequency (gnomAD v.2.1.1) 0.00099 View details
Owner VKGL-NL_Leiden
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by VKGL-NL_Leiden
Date created 2020-03-23 16:13:27 +01:00 (CET)
Date last edited 2022-05-09 15:51:19 +02:00 (CEST)
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
ABCA3 NM_001089.2 -?/. - c.3784A>G r.(?) p.(Ser1262Gly)


Screenscraping/webscraping (downloading large amounts of data using scripts) is strictly prohibited.
Use our APIs to retrieve data.