chr16:11553576:C>T 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	chr16:11,647,432-11,647,432 View the variant detail on this assembly version.
hg38	chr16:11,553,576-11,553,576

HGVS

LITAF

Type	Transcript	Protein
RefSeq	NM_004862.3:c.334G>A	NP_004853.2:p.Gly112Ser
	NM_001136473.1:c.334G>A	NP_001129945.1:p.Gly112Ser
	NR_024320.1:c.334G>A
	NM_001136472.1:c.334G>A	NP_001129944.1:p.Gly112Ser
Ensemble	ENST00000339430.9:c.334G>A	ENST00000339430.9:p.Gly112Ser
	ENST00000413364.6:c.334G>A	ENST00000413364.6:p.Gly112Ser
	ENST00000570904.5:c.334G>A	ENST00000570904.5:p.Gly112Ser
	ENST00000571459.5:c.220+2935G>A
	ENST00000571688.5:c.334G>A	ENST00000571688.5:p.Gly112Ser
	ENST00000571976.1:c.334G>A	ENST00000571976.1:p.Gly112Ser
	ENST00000572255.5:c.55G>A	ENST00000572255.5:p.Gly19Ser
	ENST00000574763.5:c.334G>A	ENST00000574763.5:p.Gly112Ser
	ENST00000576036.5:c.334G>A	ENST00000576036.5:p.Gly112Ser
	ENST00000622633.5:c.334G>A	ENST00000622633.5:p.Gly112Ser

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	2024-01-31	criteria provided, multiple submitters, no conflicts	Charcot-Marie-Tooth disease type 1C	germline unknown	Detail
Pathogenic	2023-04-03	criteria provided, multiple submitters, no conflicts	not provided	germline	Detail
Pathogenic		criteria provided, single submitter	Charcot-Marie-Tooth disease	germline	Detail
Pathogenic	2022-12-30	criteria provided, single submitter	Inborn genetic diseases	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.334G>A (p.Gly112Ser) AND Charcot-Marie-Tooth disease type 1C	ClinVar	Detail
NM_001136472.2(LITAF):c.334G>A (p.Gly112Ser) AND not provided	ClinVar	Detail
NM_001136472.2(LITAF):c.334G>A (p.Gly112Ser) AND Charcot-Marie-Tooth disease	ClinVar	Detail
NM_001136472.2(LITAF):c.334G>A (p.Gly112Ser) AND Inborn genetic diseases	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: rs104894519 dbSNP
Genome: hg38
Position: chr16:11,553,576-11,553,576
Variant Type: snv
Reference Allele: C
Alternative Allele: T

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