Variant #0000298151 (NC_000010.10:g.81371729C>G, NM_005411.4:c.148C>G (SFTPA1))

Chromosome 10
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.81371729C>G
DNA change (hg38) g.79611973C>G
Published as SFTPA1(NM_005411.5):c.148C>G (p.L50V)
ISCN -
DB-ID SFTPA1_000001
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) 0.49519 View details
Owner VKGL-NL_Groningen
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by VKGL-NL_Groningen
Date created 2018-01-15 20:58:59 +01:00 (CET)
Date last edited 2021-09-17 14:40:49 +02:00 (CEST)
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
SFTPA1 NM_001093770.2 -/. - c.193C>G r.(?) p.(Leu65Val)
SFTPA1 NM_005411.4 -/. - c.148C>G r.(?) p.(Leu50Val)


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