Annotation Detail

Information
Associated Genes
RHCE
Associated Variants
RHCE p.Leu60Ile (p.L60I) ( ENST00000294413.13, ENST00000349438.8, ENST00000346452.8, ENST00000413854.5, ENST00000349320.7, ENST00000340849.8 )
RHCE p.Leu60Ile (p.L60I) ( ENST00000294413.13, ENST00000340849.8, ENST00000346452.8, ENST00000349320.7, ENST00000349438.8, ENST00000413854.5 )
Associated Disease
not provided
Source Database
ClinVar
Description
NM_020485.8(RHCE):c.178C>A (p.Leu60Ile) AND not provided
ClinVar Allele ID
166137
ClinVar RefSeq Alternation Syntax
NM_138616.5:c.178C>A
ClinVar RefSeq Alternation Syntax
NM_138617.5:c.178C>A
ClinVar RefSeq Alternation Syntax
NM_001330430.4:c.178C>A
ClinVar RefSeq Alternation Syntax
NM_020485.8:c.178C>A
ClinVar RefSeq Alternation Syntax
NM_138618.6:c.178C>A
Clinical Significance Description
not provided
Clinical Significance Review Status
no assertion provided
URL
https://www.ncbi.nlm.nih.gov/clinvar/RCV000144441
ClinVar Disease
not provided
Observed Origin Sample
not provided
Drugs