Annotation Detail

Information
Associated Genes
LITAF
Associated Variants
LITAF p.Leu122Val (p.L122V) ( ENST00000572255.5, ENST00000413364.6, ENST00000339430.9, ENST00000570904.5, ENST00000622633.5, ENST00000571459.5, ENST00000571976.1, ENST00000576036.5, ENST00000571688.5, ENST00000574763.5 )
LITAF p.Leu122Val (p.L122V) ( ENST00000339430.9, ENST00000413364.6, ENST00000570904.5, ENST00000571459.5, ENST00000571688.5, ENST00000571976.1, ENST00000572255.5, ENST00000574763.5, ENST00000576036.5, ENST00000622633.5 )
Associated Disease
Charcot-Marie-Tooth disease type 1C
Source Database
ClinVar
Description
NM_001136472.2(LITAF):c.364C>G (p.Leu122Val) AND Charcot-Marie-Tooth disease type 1C
ClinVar Allele ID
21099
ClinVar RefSeq Alternation Syntax
NM_001136473.1:c.364C>G
ClinVar RefSeq Alternation Syntax
NM_004862.4:c.364C>G
ClinVar RefSeq Alternation Syntax
NR_024320.2:n.498C>G
ClinVar RefSeq Alternation Syntax
NM_001136472.2:c.364C>G
Clinical Significance Description
Pathogenic
Clinical Significance Last Update
2005-04-01
Clinical Significance Review Status
no assertion criteria provided
URL
https://www.ncbi.nlm.nih.gov/clinvar/RCV000006432
ClinVar Disease
Charcot-Marie-Tooth disease type 1C
Observed Origin Sample
germline
Pubmed
15776429
Drugs