ClinVar Genomic variation as it relates to human health
GRCh38/hg38 7p22.1-21.3(chr7:6887830-8054546)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 | |||
C1GALT1 | - | - |
GRCh38 GRCh37 |
27 | 69 | |
COL28A1 | - | - |
GRCh38 GRCh37 |
76 | 118 | |
GLCCI1 | - | - |
GRCh38 GRCh37 |
24 | 80 | |
GLCCI1-DT | - | - | - | GRCh38 | - | 14 |
LINC03016 | - | - | - | GRCh38 | - | 15 |
LOC116183083 | - | - | - | GRCh38 | - | 14 |
LOC116183084 | - | - | - | GRCh38 | - | 14 |
LOC121144504 | - | - | - | GRCh38 | - | 13 |
LOC126859939 | - | - | - | GRCh38 | - | 13 |
LOC129389734 | - | - | - | GRCh38 | - | 12 |
There are 35 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 |
---|---|---|---|---|
Uncertain significance (1) |
|
Aug 29, 2011 | RCV000137744.5 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated May 08, 2024