ClinVar Genomic variation as it relates to human health
GRCh37/hg19 1p36.11(chr1:25472339-26240071)x1
Germline
Classification
(1)
Uncertain significance
criteria provided, single submitter
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 | |||
AUNIP | - | - |
GRCh38 GRCh37 |
15 | 25 | |
LDLRAP1 | - | - |
GRCh38 GRCh37 |
462 | 552 | |
MACO1 | - | - |
GRCh38 GRCh37 |
17 | 30 | |
MAN1C1 | - | - |
GRCh38 GRCh37 |
38 | 52 | |
MTFR1L | - | - | - |
GRCh38 GRCh37 |
17 | 27 |
PAQR7 | - | - |
GRCh38 GRCh37 |
28 | 38 | |
RHCE | - | - |
GRCh38 GRCh37 |
38 | 54 | |
RHD | - | - |
GRCh38 GRCh37 |
- | 58 | |
RSRP1 | - | - |
GRCh38 GRCh37 |
10 | 65 | |
SELENON | - | - |
GRCh38 GRCh37 |
692 | 703 |
There are 3 more genes affected by this variant. See the full set of genes in Variation Viewer (GRCh37).
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Uncertain significance (1) |
|
Nov 11, 2022 | RCV003483105.1 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Feb 04, 2024