ClinVar Genomic variation as it relates to human health
GRCh38/hg38 1p32.2(chr1:56429283-57190889)x3
Germline
Classification
(1)
Uncertain significance
no assertion criteria provided
Somatic
No data submitted for somatic clinical impact
Somatic
No data submitted for oncogenicity
Genes
Gene | OMIM | ClinGen Gene Dosage Sensitivity Curation | Variation Viewer | Related variants | ||
---|---|---|---|---|---|---|
HI score | TS score | Within gene | All | |||
C8A | - | - |
GRCh38 GRCh37 |
354 | 369 | |
C8B | - | - |
GRCh38 GRCh37 |
355 | 369 | |
DAB1 | - | - |
GRCh38 GRCh37 |
107 | 134 | |
FYB2 | - | - |
GRCh38 GRCh37 |
6 | 20 | |
LOC101929935 | - | - | - | GRCh38 | - | 6 |
LOC112590809 | - | - | - | GRCh38 | - | 6 |
LOC112590810 | - | - | - | GRCh38 | - | 6 |
LOC120893138 | - | - | - | GRCh38 | - | 6 |
LOC122056881 | - | - | - | GRCh38 | - | 6 |
LOC122056882 | - | - | - | GRCh38 | - | 6 |
There are 8 more genes affected by this variant. See the full set of genes in Variation Viewer (GRCh38 , GRCh37 , NCBI36).
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
See cases
|
Uncertain significance (1) |
|
Jan 16, 2012 | RCV000138097.5 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated May 08, 2024