Annotation Detail
Information
- Associated Genes
- ATP7B
- Associated Variants
-
ATP7B c.1708-1G>C
(
ENST00000674147.2,
ENST00000673772.1,
ENST00000242839.10,
ENST00000713660.1,
ENST00000448424.7,
ENST00000713659.1,
ENST00000400370.8,
ENST00000418097.7,
ENST00000400366.6,
ENST00000634844.1 )
ATP7B c.1708-1G>C ( ENST00000242839.10, ENST00000400366.6, ENST00000400370.8, ENST00000418097.7, ENST00000448424.7, ENST00000634844.1, ENST00000673772.1, ENST00000674147.2, ENST00000713659.1, ENST00000713660.1 ) - Associated Disease
- Wilson disease
- Source Database
- ClinVar
- Description
- NM_000053.4(ATP7B):c.1708-1G>C AND Wilson disease
- ClinVar Allele ID
- 18889
- ClinVar RefSeq Alternation Syntax
- NM_001406544.1:c.1612-1G>C
- ClinVar RefSeq Alternation Syntax
- NM_001406539.1:c.1279-1G>C
- ClinVar RefSeq Alternation Syntax
- NM_001330579.2:c.1708-1G>C
- ClinVar RefSeq Alternation Syntax
- NM_001406545.1:c.1707+3410G>C
- ClinVar RefSeq Alternation Syntax
- NM_001406514.1:c.1675-1G>C
- ClinVar RefSeq Alternation Syntax
- NM_001406535.1:c.1708-1G>C
- ClinVar RefSeq Alternation Syntax
- NM_001406548.1:c.1285+8901G>C
- ClinVar RefSeq Alternation Syntax
- NM_001406537.1:c.1708-1G>C
- ClinVar RefSeq Alternation Syntax
- NM_001406516.1:c.1708-1G>C
- ClinVar RefSeq Alternation Syntax
- NM_001406522.1:c.1708-1G>C
- ClinVar RefSeq Alternation Syntax
- NM_001406541.1:c.1708-1G>C
- ClinVar RefSeq Alternation Syntax
- NM_001406519.1:c.1708-1G>C
- ClinVar RefSeq Alternation Syntax
- NM_001406520.1:c.1708-1G>C
- ClinVar RefSeq Alternation Syntax
- NM_001406517.1:c.1612-1G>C
- ClinVar RefSeq Alternation Syntax
- NM_001406525.1:c.1708-1G>C
- ClinVar RefSeq Alternation Syntax
- NM_001406546.1:c.1708-1G>C
- ClinVar RefSeq Alternation Syntax
- NM_001406512.1:c.1708-1G>C
- ClinVar RefSeq Alternation Syntax
- NM_001406524.1:c.1675-1G>C
- ClinVar RefSeq Alternation Syntax
- NM_001406527.1:c.1708-1G>C
- ClinVar RefSeq Alternation Syntax
- NM_001406536.1:c.1612-1G>C
- ClinVar RefSeq Alternation Syntax
- NM_001406515.1:c.1708-1G>C
- ClinVar RefSeq Alternation Syntax
- NM_001406523.1:c.1708-1G>C
- ClinVar RefSeq Alternation Syntax
- NM_001406531.1:c.1708-1G>C
- ClinVar RefSeq Alternation Syntax
- NM_001005918.3:c.1708-1G>C
- ClinVar RefSeq Alternation Syntax
- NM_001406528.1:c.1708-1G>C
- ClinVar RefSeq Alternation Syntax
- NM_001406530.1:c.1612-1G>C
- ClinVar RefSeq Alternation Syntax
- NM_001406538.1:c.1708-1G>C
- ClinVar RefSeq Alternation Syntax
- NM_001406521.1:c.1708-1G>C
- ClinVar RefSeq Alternation Syntax
- NM_001406542.1:c.1708-1G>C
- ClinVar RefSeq Alternation Syntax
- NM_001330578.2:c.1708-1G>C
- ClinVar RefSeq Alternation Syntax
- NM_001406547.1:c.1707+3410G>C
- ClinVar RefSeq Alternation Syntax
- NM_001406526.1:c.1708-1G>C
- ClinVar RefSeq Alternation Syntax
- NM_001406513.1:c.1708-1G>C
- ClinVar RefSeq Alternation Syntax
- NM_001406518.1:c.1612-1G>C
- ClinVar RefSeq Alternation Syntax
- NM_001406534.1:c.1708-1G>C
- ClinVar RefSeq Alternation Syntax
- NM_001243182.2:c.1375-1G>C
- ClinVar RefSeq Alternation Syntax
- NM_001406540.1:c.1708-1G>C
- ClinVar RefSeq Alternation Syntax
- NM_000053.4:c.1708-1G>C
- ClinVar RefSeq Alternation Syntax
- NM_001406511.1:c.1708-1G>C
- ClinVar RefSeq Alternation Syntax
- NM_001406543.1:c.1612-1G>C
- ClinVar RefSeq Alternation Syntax
- NM_001406532.1:c.1708-1G>C
- Clinical Significance Description
- Pathogenic
- Clinical Significance Last Update
- 2024-01-16
- Clinical Significance Review Status
- criteria provided, multiple submitters, no conflicts
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV000004054
- ClinVar Disease
- Wilson disease
- Observed Origin Sample
- germline
- Observed Origin Sample
- unknown
- Pubmed
- 7626145
- Pubmed
- 11060541
Drugs