ClinVar Genomic variation as it relates to human health
NM_000326.5(RLBP1):c.141G>A (p.Lys47=)
Germline
Classification
(3)
Pathogenic
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 | |||
RLBP1 | - | - |
GRCh38 GRCh37 |
383 | 423 |
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Pathogenic (1) |
|
Apr 1, 2002 | RCV000013977.23 | |
Pathogenic (1) |
|
Apr 1, 2002 | RCV000013976.17 | |
Pathogenic (1) |
|
Jul 29, 2023 | RCV002513030.2 |
Citations for germline classification of this variant
HelpText-mined citations for rs766278489 ...
HelpThese citations are identified by LitVar using
the rs number, so they may include citations for more than one variant
at this location. Please review the LitVar results carefully for your
variant of interest.
Record last updated Feb 20, 2024
NCBI staff provided an HGVS expression for allelic variant 180090.0003 based based on Figure 4 in the paper by Eichers et al., 2002 (PubMed 11868161), which reported the location in an exon/intron boundary with the sequence of the unaffected being AAGGTG.