Variant #0000832109 (NC_000009.11:g.136221814T>C, NC_000009.11(NM_003172.3):c.107-2A>G (SURF1))

Individual ID 00398239
Chromosome 9
Allele Both (homozygous)
Affects function (as reported) Affects function
Affects function (by curator) Not classified
Classification method -
Clinical classification pathogenic (recessive)
DNA change (genomic) (Relative to hg19 / GRCh37) g.136221814T>C
DNA change (hg38) g.133354959T>C
Published as -
ISCN -
DB-ID SURF1_000013 See all 3 reported entries
Variant remarks -
Reference PubMed: Echaniz-Laguna 2013
ClinVar ID -
dbSNP ID -
Origin Germline
Segregation yes
Frequency -
Re-site -
VIP -
Methylation -
Average frequency (gnomAD v.2.1.1) 1.0E-5 View details
Owner Maeve Soen
Database submission license Creative Commons Attribution 4.0 InternationalCreative Commons License
Created by Maeve Soen
Date created 2022-01-03 21:11:17 +01:00 (CET)
Date last edited 2022-01-05 10:15:34 +01:00 (CET)
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
SURF1 NM_003172.3 +/. - c.107-2A>G r.[107_240del,107-515del,107_119del,107_189del,106_107ins[107-51_107-3;gg],106_107ins[107-18_107-3;gg]] p.?



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000399483 DNA;RNA;protein microscope;PAGE;RT-PCR;Western - - SURF1 1 Maeve Soen


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