Annotation Detail
Information
- Associated Genes
- IL6ST
- Associated Variants
-
IL6ST p.Gly148Arg (p.G148R)
(
ENST00000381286.7,
ENST00000381293.6,
ENST00000381294.8,
ENST00000381298.7,
ENST00000502326.7,
ENST00000522633.2,
ENST00000698638.1,
ENST00000698639.1,
ENST00000698644.1,
ENST00000698645.1,
ENST00000698646.1 )
IL6ST p.Gly148Arg (p.G148R) ( ENST00000381286.7, ENST00000381293.6, ENST00000381294.8, ENST00000381298.7, ENST00000502326.7, ENST00000522633.2, ENST00000698638.1, ENST00000698639.1, ENST00000698644.1, ENST00000698645.1, ENST00000698646.1 ) - Associated Disease
- not provided
- Source Database
- ClinVar
- Description
- NM_002184.4(IL6ST):c.442G>C (p.Gly148Arg) AND not provided
- ClinVar Allele ID
- 1087604
- ClinVar RefSeq Alternation Syntax
- NM_001364276.2:c.232G>C
- ClinVar RefSeq Alternation Syntax
- NM_001364279.2:c.-423+1225G>C
- ClinVar RefSeq Alternation Syntax
- NR_157112.2:n.725G>C
- ClinVar RefSeq Alternation Syntax
- NM_001190981.2:c.442G>C
- ClinVar RefSeq Alternation Syntax
- NM_002184.4:c.442G>C
- ClinVar RefSeq Alternation Syntax
- NR_120480.2:n.725G>C
- ClinVar RefSeq Alternation Syntax
- NM_001364275.2:c.442G>C
- ClinVar RefSeq Alternation Syntax
- NM_175767.3:c.442G>C
- ClinVar RefSeq Alternation Syntax
- NM_001364277.2:c.-423+1225G>C
- ClinVar RefSeq Alternation Syntax
- NM_001364278.2:c.-413+1225G>C
- Clinical Significance Description
- Benign
- Clinical Significance Last Update
- 2024-01-31
- Clinical Significance Review Status
- criteria provided, single submitter
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV001522174
- ClinVar Disease
- not provided
- Observed Origin Sample
- germline
Drugs