chr16:11553564:A>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	chr16:11,647,420-11,647,420 View the variant detail on this assembly version.
hg38	chr16:11,553,564-11,553,564

HGVS

LITAF

Type	Transcript	Protein
RefSeq	NM_004862.3:c.346T>G	NP_004853.2:p.Trp116Gly
	NM_001136473.1:c.346T>G	NP_001129945.1:p.Trp116Gly
	NR_024320.1:c.346T>G
	NM_001136472.1:c.346T>G	NP_001129944.1:p.Trp116Gly
Ensemble	ENST00000339430.9:c.346T>G	ENST00000339430.9:p.Trp116Gly
	ENST00000413364.6:c.346T>G	ENST00000413364.6:p.Trp116Gly
	ENST00000570904.5:c.346T>G	ENST00000570904.5:p.Trp116Gly
	ENST00000571459.5:c.220+2947T>G
	ENST00000571688.5:c.346T>G	ENST00000571688.5:p.Trp116Gly
	ENST00000571976.1:c.346T>G	ENST00000571976.1:p.Trp116Gly
	ENST00000572255.5:c.67T>G	ENST00000572255.5:p.Trp23Gly
	ENST00000574763.5:c.346T>G	ENST00000574763.5:p.Trp116Gly
	ENST00000576036.5:c.346T>G	ENST00000576036.5:p.Trp116Gly
	ENST00000622633.5:c.346T>G	ENST00000622633.5:p.Trp116Gly

Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics	Show details

Frequency

[No Data.]

Prediction

ClinVar

Clinical Significance	Pathogenic
Review star
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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	2022-01-27	criteria provided, single submitter	Charcot-Marie-Tooth disease type 1C	germline unknown	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.346T>G (p.Trp116Gly) 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: rs104894521 dbSNP
Genome: hg38
Position: chr16:11,553,564-11,553,564
Variant Type: snv
Reference Allele: A
Alternative Allele: C

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