ClinVar Genomic variation as it relates to human health
NG_011787.1:g.(205313_260238)_(334455_354191)del
Germline
Classification
(1)
Pathogenic
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 | |||
NFIA | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
293 | 330 | |
LOC122056897 | - | - | - | GRCh38 | - | 20 |
LOC129388539 | - | - | - | GRCh38 | - | 20 |
LOC129388540 | - | - | - | GRCh38 | - | 20 |
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Pathogenic (1) |
|
Feb 1, 2014 | RCV000477967.1 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Oct 15, 2023
120-kb microdeletion of 1p31.3 involving exons 4-9 of the NFIA gene identified via array CGH, beginning in intron 3 and ending in intron 9.
NCBI staff reviewed the sequence information reported in PubMed 24462883 Fig. 2A to determine the location of this allele on the current reference sequence. Sequencing information was not given, so it is not possible to determine the exact location of the breakpoints. The deletion is predicted to span exons 4-9 of NM_001134673.3, though no RNA sequencing was performed.