Annotation Detail
Information
- Associated Genes
- RPL35A IQCG
- Associated Variants
-
RPL35A p.Arg89Gln (p.R89Q), IQCG c.-60+5425C>T
(
ENST00000448864.6,
ENST00000647248.2,
ENST00000265239.11 )
RPL35A p.Arg89Gln (p.R89Q), IQCG c.-60+5425C>T ( ENST00000448864.6, ENST00000647248.2, ENST00000265239.11 ) - Associated Disease
- not provided
- Source Database
- ClinVar
- Description
- NM_000996.4(RPL35A):c.266G>A (p.Arg89Gln) AND not provided
- ClinVar Allele ID
- 293655
- ClinVar RefSeq Alternation Syntax
- NM_032263.5:c.-60+5425C>T
- ClinVar RefSeq Alternation Syntax
- NM_001316311.2:c.266G>A
- ClinVar RefSeq Alternation Syntax
- NM_001323028.2:c.-50+5425C>T
- ClinVar RefSeq Alternation Syntax
- NM_001323029.2:c.-375+5425C>T
- ClinVar RefSeq Alternation Syntax
- NM_000996.4:c.266G>A
- Clinical Significance Description
- Likely benign
- Clinical Significance Last Update
- 2019-05-15
- Clinical Significance Review Status
- criteria provided, single submitter
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV002057875
- ClinVar Disease
- not provided
- Observed Origin Sample
- germline
Drugs