ClinVar Genomic variation as it relates to human health
GRCh37/hg19 1p35.1(chr1:33099109-33528691)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 | |||
AK2 | - | - |
GRCh38 GRCh37 |
179 | 216 | |
FNDC5 | - | - |
GRCh38 GRCh37 |
13 | 25 | |
HPCA | - | - |
GRCh38 GRCh37 |
49 | 61 | |
NHSL3 | - | - | - |
GRCh38 GRCh37 |
99 | 107 |
RBBP4 | - | - |
GRCh38 GRCh37 |
5 | 18 | |
RNF19B | - | - |
GRCh38 GRCh37 |
44 | 57 | |
S100PBP | - | - |
GRCh38 GRCh37 |
30 | 87 | |
SYNC | - | - |
GRCh38 GRCh37 |
32 | 45 | |
TMEM54 | - | - | - |
GRCh38 GRCh37 |
19 | 31 |
YARS1 | - | - |
GRCh38 GRCh37 |
430 | 564 |
There is 1 more gene 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) |
|
Aug 24, 2022 | RCV003483127.1 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Feb 04, 2024