chr16:11553546:G>C Detail (hg38) (LITAF)

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Summary
Information
Links
Disease area statistics
MGeND
ClinVar
CIViC
DisGeNET
Annotation
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Information

Genome

Assembly	Position
hg19	chr16:11,647,402-11,647,402 View the variant detail on this assembly version.
hg38	chr16:11,553,546-11,553,546

HGVS

LITAF

Type	Transcript	Protein
RefSeq	NM_004862.3:c.364C>G	NP_004853.2:p.Leu122Val
	NM_001136473.1:c.364C>G	NP_001129945.1:p.Leu122Val
	NR_024320.1:c.364C>G
	NM_001136472.1:c.364C>G	NP_001129944.1:p.Leu122Val
Ensemble	ENST00000339430.9:c.364C>G	ENST00000339430.9:p.Leu122Val
	ENST00000413364.6:c.364C>G	ENST00000413364.6:p.Leu122Val
	ENST00000570904.5:c.364C>G	ENST00000570904.5:p.Leu122Val
	ENST00000571459.5:c.220+2965C>G
	ENST00000571688.5:c.364C>G	ENST00000571688.5:p.Leu122Val
	ENST00000571976.1:c.364C>G	ENST00000571976.1:p.Leu122Val
	ENST00000572255.5:c.85C>G	ENST00000572255.5:p.Leu29Val
	ENST00000574763.5:c.364C>G	ENST00000574763.5:p.Leu122Val
	ENST00000576036.5:c.364C>G	ENST00000576036.5:p.Leu122Val
	ENST00000622633.5:c.364C>G	ENST00000622633.5:p.Leu122Val

Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics	Show details

Frequency

[No Data.]

Prediction

ClinVar

Clinical Significance	Pathogenic
Review star
Show details

Links

LITAF

Type	Database	ID	Link
Gene	MIM	603795	OMIM
	HGNC	16841	HGNC
	Ensembl	ENSG00000189067	Ensembl
	NCBI		NCBI
	Gene Cards		Gene Cards
	OncoKB		OncoKB

Type	Database	ID	Link
Variant	TogoVar
	COSMIC
	MONDO

Disease area statistics

[No Data.]

MGeND

[No Data.]

ClinVar

Clinical significance	Last evaluated	Review status	Condition	Origin	Links
Pathogenic	2005-04-01	no assertion criteria provided	Charcot-Marie-Tooth disease type 1C	germline	Detail

CIViC

[No Data.]

DisGeNET

Score	Disease name	Description	Source	Pubmed	Links
0.481	Charcot-Marie-Tooth disease, Type 1C	NA	CLINVAR		Detail

Annotation

Annotations

Descrption	Source	Links
NM_001136472.2(LITAF):c.364C>G (p.Leu122Val) AND Charcot-Marie-Tooth disease type 1C	ClinVar	Detail
NA	DisGeNET	Detail

Overlapped Transcript Coordinates

Gene	Transcript ID	Exon Number	Chromosome	Start	Stop	Type	Amino Mutation	Transcript Position	Links

Overlapped Transcript

Gene	Transcript ID	Chromosome	Start	Stop	Links

Gene: -
dbSNP: rs104894522 dbSNP
Genome: hg38
Position: chr16:11,553,546-11,553,546
Variant Type: snv
Reference Allele: G
Alternative Allele: C

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