chrX:136207825:G>C Detail (hg38) (FHL1)

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

Genome

Assembly	Position
hg19	chrX:135,289,984-135,289,984 View the variant detail on this assembly version.
hg38	chrX:136,207,825-136,207,825

HGVS

FHL1

Type	Transcript	Protein
RefSeq	NM_001330659.1:c.413G>C	NP_001317588.1:p.Trp138Ser
	NM_001159699.1:c.413G>C	NP_001153171.1:p.Trp138Ser
	NM_001167819.1:c.365G>C	NP_001161291.1:p.Trp122Ser
	NM_001159702.2:c.365G>C	NP_001153174.1:p.Trp122Ser
	NM_001159701.1:c.452G>C	NP_001153173.1:p.Trp151Ser
	NM_001159704.1:c.365G>C	NP_001153176.1:p.Trp122Ser
	NM_001159703.1:c.365G>C	NP_001153175.1:p.Trp122Ser
	NR_027621.1:c.365G>C
	NM_001159700.1:c.365G>C	NP_001153172.1:p.Trp122Ser
Ensemble	ENST00000370676.7:c.413G>C	ENST00000370676.7:p.Trp138Ser
	ENST00000370683.6:c.413G>C	ENST00000370683.6:p.Trp138Ser
	ENST00000394153.6:c.365G>C	ENST00000394153.6:p.Trp122Ser
	ENST00000394155.8:c.365G>C	ENST00000394155.8:p.Trp122Ser
	ENST00000535737.5:c.365G>C	ENST00000535737.5:p.Trp122Ser
	ENST00000539015.5:c.452G>C	ENST00000539015.5:p.Trp151Ser
	ENST00000543669.5:c.365G>C	ENST00000543669.5:p.Trp122Ser
	ENST00000618438.4:c.365G>C	ENST00000618438.4:p.Trp122Ser
	ENST00000628568.1:c.365G>C	ENST00000628568.1:p.Trp122Ser
	ENST00000628919.3:c.365G>C	ENST00000628919.3:p.Trp122Ser
	ENST00000629039.2:c.365G>C	ENST00000629039.2:p.Trp122Ser
	ENST00000630084.2:c.365G>C	ENST00000630084.2:p.Trp122Ser
	ENST00000651089.1:c.365G>C	ENST00000651089.1:p.Trp122Ser
	ENST00000651929.2:c.365G>C	ENST00000651929.2:p.Trp122Ser
	ENST00000652457.1:c.365G>C	ENST00000652457.1:p.Trp122Ser

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

FHL1

Type	Database	ID	Link
Gene	MIM	300163	OMIM
	HGNC	3702	HGNC
	Ensembl	ENSG00000022267	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	2015-02-01	no assertion criteria provided	X-linked scapuloperoneal muscular dystrophy	germline	Detail
Pathogenic	2019-08-27	criteria provided, single submitter	not provided	germline	Detail

CIViC

[No Data.]

DisGeNET

Score	Disease name	Description	Source	Pubmed	Links
<0.001	Muscle Weakness	Because muscle weakness was evident prior to loss of Fhl1 protein and without re...	BeFree	25274776	Detail
0.480	SCAPULOPERONEAL MYOPATHY, X-LINKED DOMINANT	NA	CLINVAR		Detail
<0.001	myopathy	In 2008, we identified a missense mutation in the second LIM domain of FHL1 (c.3...	BeFree	25274776	Detail
0.010	myopathy	Fhl1 W122S causes loss of protein function and late-onset mild myopathy.	BeFree	25274776	Detail
<0.001	Paresis	Because muscle weakness was evident prior to loss of Fhl1 protein and without re...	BeFree	25274776	Detail

Annotation

Annotations

Descrption	Source	Links
NM_001159699.2(FHL1):c.413G>C (p.Trp138Ser) AND X-linked scapuloperoneal muscular dystrophy	ClinVar	Detail
NM_001159699.2(FHL1):c.413G>C (p.Trp138Ser) AND not provided	ClinVar	Detail
Because muscle weakness was evident prior to loss of Fhl1 protein and without reducing bodies, our f...	DisGeNET	Detail
NA	DisGeNET	Detail
In 2008, we identified a missense mutation in the second LIM domain of FHL1 (c.365 G>C, p.W122S) ...	DisGeNET	Detail
Fhl1 W122S causes loss of protein function and late-onset mild myopathy.	DisGeNET	Detail
Because muscle weakness was evident prior to loss of Fhl1 protein and without reducing bodies, our f...	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: rs122458140 dbSNP
Genome: hg38
Position: chrX:136,207,825-136,207,825
Variant Type: snv
Reference Allele: G
Alternative Allele: C

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