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 International |
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) |

Variant on transcripts
Screenings
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