Variant #0000653489 (NC_000010.10:g.81373753T>C, NM_005411.4:c.631T>C (SFTPA1))

Individual ID 00295609
Chromosome 10
Allele Maternal (inferred)
Affects function (as reported) Affects function
Affects function (by curator) Not classified
Classification method -
Clinical classification VUS
DNA change (genomic) (Relative to hg19 / GRCh37) g.81373753T>C
DNA change (hg38) g.79613997T>C
Published as -
ISCN -
DB-ID SFTPA1_000009 See all 2 reported entries
Variant remarks -
Reference -
ClinVar ID -
dbSNP ID -
Origin Germline
Segregation yes
Frequency -
Re-site -
VIP -
Methylation -
Average frequency (gnomAD v.2.1.1) Retrieve
Owner Joanne van der Vis
Database submission license No license selected
Created by Joanne van der Vis
Date created 2020-03-19 09:32:45 +01:00 (CET)
Date last edited 2020-03-19 13:29:27 +01:00 (CET)
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
SFTPA1 NM_005411.4 +/. 6 c.631T>C r.(?) p.(Trp211Arg)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000296780 DNA SEQ - - SFTPA1 1 Joanne van der Vis


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