Annotation Detail
Information
- Associated Genes
- LITAF
- Associated Variants
-
LITAF p.Thr115Asn (p.T115N)
(
ENST00000574763.5,
ENST00000571688.5,
ENST00000576036.5,
ENST00000571976.1,
ENST00000571459.5,
ENST00000339430.9,
ENST00000570904.5,
ENST00000622633.5,
ENST00000413364.6,
ENST00000572255.5 )
LITAF p.Thr115Asn (p.T115N) ( 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.344C>A (p.Thr115Asn) AND Charcot-Marie-Tooth disease type 1C
- ClinVar Allele ID
- 21097
- ClinVar RefSeq Alternation Syntax
- NM_001136473.1:c.344C>A
- ClinVar RefSeq Alternation Syntax
- NM_004862.4:c.344C>A
- ClinVar RefSeq Alternation Syntax
- NM_001136472.2:c.344C>A
- ClinVar RefSeq Alternation Syntax
- NR_024320.2:n.478C>A
- Clinical Significance Description
- Likely pathogenic
- Clinical Significance Last Update
- 2021-03-17
- Clinical Significance Review Status
- criteria provided, single submitter
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV000006430
- ClinVar Disease
- Charcot-Marie-Tooth disease type 1C
- Observed Origin Sample
- germline
- Observed Origin Sample
- unknown
- Pubmed
- 1407588
- Pubmed
- 2239969
- Pubmed
- 12525712
Drugs