Variant #0001025773 (NC_000010.10:g.81371391G>A, NC_000010.10(NM_005411.4):c.-23-168G>A (SFTPA1))

Chromosome 10
Allele Unknown
Affects function (as reported) Effect unknown
Affects function (by curator) Not classified
Classification method -
Clinical classification VUS
DNA change (genomic) (Relative to hg19 / GRCh37) g.81371391G>A
DNA change (hg38) -
Published as SFTPA1(NM_005411.5):c.-23-168G>A
ISCN -
DB-ID SFTPA1_000015
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) Retrieve
Owner VKGL-NL_Groningen
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by VKGL-NL_Groningen
Date created 2025-02-07 18:57:27 +01:00 (CET)
Date last edited N/A
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
SFTPA1 NM_001093770.2 ?/. - c.16G>A r.(?) p.(Val6Met)
SFTPA1 NM_005411.4 ?/. - c.-23-168G>A r.(=) p.(=)


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