Annotation Detail

Information
Associated Genes
FECH
Associated Variants
FECH c.333-48T>C ( ENST00000262093.11, ENST00000382873.8, ENST00000652755.1 )
FECH c.333-48T>C ( ENST00000262093.11, ENST00000382873.8, ENST00000652755.1 )
Source Database
ClinVar
Description
NM_000140.5(FECH):c.315-48T>C AND multiple conditions
ClinVar Allele ID
15601
ClinVar RefSeq Alternation Syntax
NM_001371094.1:c.315-48T>C
ClinVar RefSeq Alternation Syntax
NM_001012515.4:c.333-48T>C
ClinVar RefSeq Alternation Syntax
NM_000140.5:c.315-48T>C
ClinVar RefSeq Alternation Syntax
NM_001374778.1:c.315-48T>C
ClinVar RefSeq Alternation Syntax
NM_001371095.1:c.99-48T>C
Clinical Significance Description
no classifications from unflagged records
Clinical Significance Last Update
2024-02-15
Clinical Significance Review Status
no classifications from unflagged records
URL
https://www.ncbi.nlm.nih.gov/clinvar/RCV000414979
Observed Origin Sample
unknown
Drugs