Annotation Detail

Information
Associated Genes
LITAF
Associated Variants
LITAF p.Val144Met (p.V144M) ( ENST00000571688.5, ENST00000574763.5, ENST00000576036.5, ENST00000571459.5, ENST00000413364.6, ENST00000572255.5, ENST00000339430.9, ENST00000570904.5, ENST00000622633.5 )
LITAF p.Val144Met (p.V144M) ( ENST00000339430.9, ENST00000413364.6, ENST00000570904.5, ENST00000571459.5, ENST00000571688.5, 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.430G>A (p.Val144Met) AND Charcot-Marie-Tooth disease type 1C
ClinVar Allele ID
21100
ClinVar RefSeq Alternation Syntax
NM_004862.4:c.430G>A
ClinVar RefSeq Alternation Syntax
NR_024320.2:n.564G>A
ClinVar RefSeq Alternation Syntax
NM_001136472.2:c.430G>A
ClinVar RefSeq Alternation Syntax
NM_001136473.1:c.*69G>A
Clinical Significance Description
Pathogenic
Clinical Significance Last Update
2009-10-01
Clinical Significance Review Status
no assertion criteria provided
URL
https://www.ncbi.nlm.nih.gov/clinvar/RCV000006433
ClinVar Disease
Charcot-Marie-Tooth disease type 1C
Observed Origin Sample
germline
Pubmed
19541485
Drugs