RGD:8598727 Rat Genome Database

Variant: RGD:8598727 - Homo sapiens

RGD ID:

8598727

RS ID:

rs267606813

ClinVar ID:

CV26601

Genic Status:

GENIC

Type:

SNV (SO:0001483)

Associated Genes:

FHL1

Reference Nucleotide:

Variant Nucleotide:

Position

Assembly	Chr	Position
GRCh37	X	135,289,988
GRCh38	X	136,207,829

JBrowse:

View Region in Genome Browser (JBrowse)

Model

Annotation Click to see Annotation Detail View

ClinVar Data

HGVS Name(s)	Last Evaluated	Molecular Consequence	Clinical Significance	Age of Onset	Prevalence	Trait Synonyms
NG_015895.1:g.65430C>G NC_000023.11:g.136207829C>G NC_000023.10:g.135289988C>G NP_001153174.1:p.His123Gln More...	05/20/2020	missense\|missense variant\|non-coding transcript variant	pathogenic	adult\|neonatal/infancy	<1 / 1 000 000	REDUCING BODY MYOPATHY, X-LINKED 1, SEVERE, WITH INFANTILE OR EARLY CHILDHOOD ONSET

Disease Annotations Click to see Annotation Detail View

reducing body myopathy 1A (IAGP)

X-linked Emery-Dreifuss muscular dystrophy 6 (IAGP)

Variant Details

Variant Transcripts

Gene Symbol:	FHL1
Accession:	XM_047441927
Location:	EXON
Amino Acid Prediction:	H to Q (nonsynonymous)
Amino Acid Position:	123

Amino Acid Sequence (Calculated using NCBI transcript definition)
MAEKFDCHYCRDPLQGKKYVQKDGHHCCLKCFDKFCANTCVECRKPIGADSKEVHYKNRFWHDTCFRCAKCLHPLANETF VAKDNKILCNKCTTREDSPKCKGCFKAIVAGDQNVEYKGTVWQKDCFTCSNCKQVIGTGSFFPKGEDFYCVTCHETKFAK HCVKCNKAITSGGITYQDQPWHADCFVCVTCSKKLAGQRFTAVEDQYYCVDCYKNFVAKKCAGCKNPITGFGKGSSVVAY EGQSWHDYCFHCKKCSVNLANKRFVFHQEQVYCPDCAKKL*

Gene Symbol:	FHL1
Accession:	NM_001449
Location:	EXON
Amino Acid Prediction:	H to Q (nonsynonymous)
Amino Acid Position:	123

Amino Acid Sequence (Calculated using NCBI transcript definition)
MAEKFDCHYCRDPLQGKKYVQKDGHHCCLKCFDKFCANTCVECRKPIGADSKEVHYKNRFWHDTCFRCAKCLHPLANETF VAKDNKILCNKCTTREDSPKCKGCFKAIVAGDQNVEYKGTVWQKDCFTCSNCKQVIGTGSFFPKGEDFYCVTCHETKFAK HCVKCNKAITSGGITYQDQPWHADCFVCVTCSKKLAGQRFTAVEDQYYCVDCYKNFVAKKCAGCKNPITGFGKGSSVVAY EGQSWHDYCFHCKKCSVNLANKRFVFHQEQVYCPDCAKKL*

Gene Symbol:	FHL1
Accession:	NM_001159699
Location:	EXON
Amino Acid Prediction:	H to Q (nonsynonymous)
Amino Acid Position:	139

Amino Acid Sequence (Calculated using NCBI transcript definition)
MASHRHSGPSSYKVGTMAEKFDCHYCRDPLQGKKYVQKDGHHCCLKCFDKFCANTCVECRKPIGADSKEVHYKNRFWHDT CFRCAKCLHPLANETFVAKDNKILCNKCTTREDSPKCKGCFKAIVAGDQNVEYKGTVWQKDCFTCSNCKQVIGTGSFFPK GEDFYCVTCHETKFAKHCVKCNKAITSGGITYQDQPWHADCFVCVTCSKKLAGQRFTAVEDQYYCVDCYKNFVAKKCAGC KNPITGFGKGSSVVAYEGQSWHDYCFHCKKCSVNLANKRFVFHQEQVYCPDCAKKL*

Gene Symbol:	FHL1
Accession:	NM_001369329
Location:	EXON
Amino Acid Prediction:	H to Q (nonsynonymous)
Amino Acid Position:	123

Amino Acid Sequence (Calculated using NCBI transcript definition)
MAEKFDCHYCRDPLQGKKYVQKDGHHCCLKCFDKFCANTCVECRKPIGADSKEVHYKNRFWHDTCFRCAKCLHPLANETF VAKDNKILCNKCTTREDSPKCKGCFKAIVAGDQNVEYKGTVWQKDCFTCSNCKQVIGTGSFFPKGEDFYCVTCHETKFAK HCVKCNKAITSGGITYQDQPWHADCFVCVTCSKKLAGQRFTAVEDQYYCVDCYKNFVAKKCAGCKNPITGFGKGSSVVAY EGQSWHDYCFHCKKCSVNLANKRFVFHQEQVYCPDCAKKL*

Gene Symbol:	FHL1
Accession:	NM_001159703
Location:	EXON
Amino Acid Prediction:	H to Q (nonsynonymous)
Amino Acid Position:	123

Amino Acid Sequence (Calculated using NCBI transcript definition)
MAEKFDCHYCRDPLQGKKYVQKDGHHCCLKCFDKFCANTCVECRKPIGADSKEVHYKNRFWHDTCFRCAKCLHPLANETF VAKDNKILCNKCTTREDSPKCKGCFKAIVAGDQNVEYKGTVWQKDCFTCSNCKQVIGTGSFFPKGEDFYCVTCHETKFAK HCVKCNKGLVKAPVWWPMKDNPGTTTASTAKNAP*

Gene Symbol:	FHL1
Accession:	NM_001330659
Location:	EXON
Amino Acid Prediction:	H to Q (nonsynonymous)
Amino Acid Position:	139

Amino Acid Sequence (Calculated using NCBI transcript definition)
MASHRHSGPSSYKVGTMAEKFDCHYCRDPLQGKKYVQKDGHHCCLKCFDKFCANTCVECRKPIGADSKEVHYKNRFWHDT CFRCAKCLHPLANETFVAKDNKILCNKCTTREDSPKCKGCFKAIVAGDQNVEYKGTVWQKDCFTCSNCKQVIGTGSFFPK GEDFYCVTCHETKFAKHCVKCNKGLVKAPVWWPMKDNPGTTTASTAKNAP*

Gene Symbol:	FHL1
Accession:	NM_001369330
Location:	EXON
Amino Acid Prediction:	H to Q (nonsynonymous)
Amino Acid Position:	123

Amino Acid Sequence (Calculated using NCBI transcript definition)
MAEKFDCHYCRDPLQGKKYVQKDGHHCCLKCFDKFCANTCVECRKPIGADSKEVHYKNRFWHDTCFRCAKCLHPLANETF VAKDNKILCNKCTTREDSPKCKGCFKAIVAGDQNVEYKGTVWQKDCFTCSNCKQVIGTGSFFPKGEDFYCVTCHETKFAK HCVKCNKAITSGGITYQDQPWHADCFVCVTCSKKLAGQRFTAVEDQYYCVDCYKNFVAKKCAGCKNPITGFGKGSSVVAY EGQSWHDYCFHCKKCSVNLANKRFVFHQEQVYCPDCAKKL*

Gene Symbol:	FHL1
Accession:	NM_001369331
Location:	EXON
Amino Acid Prediction:	H to Q (nonsynonymous)
Amino Acid Position:	123

Amino Acid Sequence (Calculated using NCBI transcript definition)
MAEKFDCHYCRDPLQGKKYVQKDGHHCCLKCFDKFCANTCVECRKPIGADSKEVHYKNRFWHDTCFRCAKCLHPLANETF VAKDNKILCNKCTTREDSPKCKGCFKAIVAGDQNVEYKGTVWQKDCFTCSNCKQVIGTGSFFPKGEDFYCVTCHETKFAK HCVKCNKAITSGGITYQDQPWHADCFVCVTCSKKLAGQRFTAVEDQYYCVDCYKNFVAKKCAGCKNPITGFGKGSSVVAY EGQSWHDYCFHCKKCSVNLANKRFVFHQEQVYCPDCAKKL*

Gene Symbol:	FHL1
Accession:	NM_001159700
Location:	EXON
Amino Acid Prediction:	H to Q (nonsynonymous)
Amino Acid Position:	123

Amino Acid Sequence (Calculated using NCBI transcript definition)
MAEKFDCHYCRDPLQGKKYVQKDGHHCCLKCFDKFCANTCVECRKPIGADSKEVHYKNRFWHDTCFRCAKCLHPLANETF VAKDNKILCNKCTTREDSPKCKGCFKAIVAGDQNVEYKGTVWQKDCFTCSNCKQVIGTGSFFPKGEDFYCVTCHETKFAK HCVKCNKAITSGGITYQDQPWHADCFVCVTCSKKLAGQRFTAVEDQYYCVDCYKNFVAKKCAGCKNPITGFGKGSSVVAY EGQSWHDYCFHCKKCSVNLANKRFVFHQEQVYCPDCAKKL*

Gene Symbol:	FHL1
Accession:	NM_001369328
Location:	EXON
Amino Acid Prediction:	H to Q (nonsynonymous)
Amino Acid Position:	123

Amino Acid Sequence (Calculated using NCBI transcript definition)
MAEKFDCHYCRDPLQGKKYVQKDGHHCCLKCFDKFCANTCVECRKPIGADSKEVHYKNRFWHDTCFRCAKCLHPLANETF VAKDNKILCNKCTTREDSPKCKGCFKAIVAGDQNVEYKGTVWQKDCFTCSNCKQVIGTGSFFPKGEDFYCVTCHETKFAK HCVKCNKAITSGGITYQDQPWHADCFVCVTCSKKLAGQRFTAVEDQYYCVDCYKNFVAKKCAGCKNPITGKRTVSRVSHP VSKARKPPVCHGKRLPLTLFPSANLRGRHPGGERTCPSWVVVLYRKNRSLAAPRGPGLVKAPVWWPMKDNPGTTTASTAK NAP*

Gene Symbol:	FHL1
Accession:	NM_001159704
Location:	EXON
Amino Acid Prediction:	H to Q (nonsynonymous)
Amino Acid Position:	123

Amino Acid Sequence (Calculated using NCBI transcript definition)
MAEKFDCHYCRDPLQGKKYVQKDGHHCCLKCFDKFCANTCVECRKPIGADSKEVHYKNRFWHDTCFRCAKCLHPLANETF VAKDNKILCNKCTTREDSPKCKGCFKAIVAGDQNVEYKGTVWQKDCFTCSNCKQVIGTGSFFPKGEDFYCVTCHETKFAK HCVKCNKAITSGGITYQDQPWHADCFVCVTCSKKLAGQRFTAVEDQYYCVDCYKNFVAKKCAGCKNPITGFGKGSSVVAY EGQSWHDYCFHCKKCSVNLANKRFVFHQEQVYCPDCAKKL*

Gene Symbol:	FHL1
Accession:	NM_001369327
Location:	EXON
Amino Acid Prediction:	H to Q (nonsynonymous)
Amino Acid Position:	123

Amino Acid Sequence (Calculated using NCBI transcript definition)
MAEKFDCHYCRDPLQGKKYVQKDGHHCCLKCFDKFCANTCVECRKPIGADSKEVHYKNRFWHDTCFRCAKCLHPLANETF VAKDNKILCNKCTTREDSPKCKGCFKAIVAGDQNVEYKGTVWQKDCFTCSNCKQVIGTGSFFPKGEDFYCVTCHETKFAK HCVKCNKAITSGGITYQDQPWHADCFVCVTCSKKLAGQRFTAVEDQYYCVDCYKNFVAKKCAGCKNPITGKRTVSRVSHP VSKARKPPVCHGKRLPLTLFPSANLRGRHPGGERTCPSWVVVLYRKNRSLAAPRGPGLVKAPVWWPMKDNPGTTTASTAK NAP*

Gene Symbol:	FHL1
Accession:	NM_001159702
Location:	EXON
Amino Acid Prediction:	H to Q (nonsynonymous)
Amino Acid Position:	123

Amino Acid Sequence (Calculated using NCBI transcript definition)
MAEKFDCHYCRDPLQGKKYVQKDGHHCCLKCFDKFCANTCVECRKPIGADSKEVHYKNRFWHDTCFRCAKCLHPLANETF VAKDNKILCNKCTTREDSPKCKGCFKAIVAGDQNVEYKGTVWQKDCFTCSNCKQVIGTGSFFPKGEDFYCVTCHETKFAK HCVKCNKAITSGGITYQDQPWHADCFVCVTCSKKLAGQRFTAVEDQYYCVDCYKNFVAKKCAGCKNPITGKRTVSRVSHP VSKARKPPVCHGKRLPLTLFPSANLRGRHPGGERTCPSWVVVLYRKNRSLAAPRGPGLVKAPVWWPMKDNPGTTTASTAK NAP*

Gene Symbol:	FHL1
Accession:	NM_001167819
Location:	EXON
Amino Acid Prediction:	H to Q (nonsynonymous)
Amino Acid Position:	123

Amino Acid Sequence (Calculated using NCBI transcript definition)
MAEKFDCHYCRDPLQGKKYVQKDGHHCCLKCFDKFCANTCVECRKPIGADSKEVHYKNRFWHDTCFRCAKCLHPLANETF VAKDNKILCNKCTTREDSPKCKGCFKAIVAGDQNVEYKGTVWQKDCFTCSNCKQVIGTGSFFPKGEDFYCVTCHETKFAK HCVKCNKAITSGGITYQDQPWHADCFVCVTCSKKLAGQRFTAVEDQYYCVDCYKNFVAKKCAGCKNPITGFGKGSSVVAY EGQSWHDYCFHCKKCSVNLANKRFVFHQEQVYCPDCAKKL*

Gene Symbol:	FHL1
Accession:	XM_006724746
Location:	EXON
Amino Acid Prediction:	H to Q (nonsynonymous)
Amino Acid Position:	123

Amino Acid Sequence (Calculated using NCBI transcript definition)
MAEKFDCHYCRDPLQGKKYVQKDGHHCCLKCFDKFCANTCVECRKPIGADSKEVHYKNRFWHDTCFRCAKCLHPLANETF VAKDNKILCNKCTTREDSPKCKGCFKAIVAGDQNVEYKGTVWQKDCFTCSNCKQVIGTGSFFPKGEDFYCVTCHETKFAK HCVKCNKAITSGGITYQDQPWHADCFVCVTCSKKLAGQRFTAVEDQYYCVDCYKNFVAKKCAGCKNPITGKRTVSRVSHP VSKARKPPVCHGKRLPLTLFPSANLRGRHPGGERTCPSWVVVLYRKNRSLAAPRGPGLVKAPVWWPMKDNPGTTTASTAK NAP*

Gene Symbol:	FHL1
Accession:	XM_047441926
Location:	EXON
Amino Acid Prediction:	H to Q (nonsynonymous)
Amino Acid Position:	123

Amino Acid Sequence (Calculated using NCBI transcript definition)
MAEKFDCHYCRDPLQGKKYVQKDGHHCCLKCFDKFCANTCVECRKPIGADSKEVHYKNRFWHDTCFRCAKCLHPLANETF VAKDNKILCNKCTTREDSPKCKGCFKAIVAGDQNVEYKGTVWQKDCFTCSNCKQVIGTGSFFPKGEDFYCVTCHETKFAK HCVKCNKAITSGGITYQDQPWHADCFVCVTCSKKLAGQRFTAVEDQYYCVDCYKNFVAKKCAGCKNPITGKRTVSRVSHP VSKARKPPVCHGKRLPLTLFPSANLRGRHPGGERTCPSWVVVLYRKNRSLAAPRGPGLVKAPVWWPMKDNPGTTTASTAK NAP*

Gene Symbol:	FHL1
Accession:	XM_024452354
Location:	EXON
Amino Acid Prediction:	H to Q (nonsynonymous)
Amino Acid Position:	123

Amino Acid Sequence (Calculated using NCBI transcript definition)
MAEKFDCHYCRDPLQGKKYVQKDGHHCCLKCFDKFCANTCVECRKPIGADSKEVHYKNRFWHDTCFRCAKCLHPLANETF VAKDNKILCNKCTTREDSPKCKGCFKAIVAGDQNVEYKGTVWQKDCFTCSNCKQVIGTGSFFPKGEDFYCVTCHETKFAK HCVKCNKAITSGGITYQDQPWHADCFVCVTCSKKLAGQRFTAVEDQYYCVDCYKNFVAKKCAGCKNPITGKRTVSRVSHP VSKARKPPVCHGKRLPLTLFPSANLRGRHPGGERTCPSWVVVLYRKNRSLAAPRGPGLVKAPVWWPMKDNPGTTTASTAK NAP*

Gene Symbol:	FHL1
Accession:	NM_001159701
Location:	EXON
Amino Acid Prediction:	H to Q (nonsynonymous)
Amino Acid Position:	152

Amino Acid Sequence (Calculated using NCBI transcript definition)
MTFYVASLALELIWMLSSPAGPSSYKVGTMAEKFDCHYCRDPLQGKKYVQKDGHHCCLKCFDKFCANTCVECRKPIGADS KEVHYKNRFWHDTCFRCAKCLHPLANETFVAKDNKILCNKCTTREDSPKCKGCFKAIVAGDQNVEYKGTVWQKDCFTCSN CKQVIGTGSFFPKGEDFYCVTCHETKFAKHCVKCNKAITSGGITYQDQPWHADCFVCVTCSKKLAGQRFTAVEDQYYCVD CYKNFVAKKCAGCKNPITGFGKGSSVVAYEGQSWHDYCFHCKKCSVNLANKRFVFHQEQVYCPDCAKKL*

Gene Symbol:	FHL1
Accession:	XM_006724743
Location:	EXON
Amino Acid Prediction:	H to Q (nonsynonymous)
Amino Acid Position:	139

Amino Acid Sequence (Calculated using NCBI transcript definition)
MASHRHSGPSSYKVGTMAEKFDCHYCRDPLQGKKYVQKDGHHCCLKCFDKFCANTCVECRKPIGADSKEVHYKNRFWHDT CFRCAKCLHPLANETFVAKDNKILCNKCTTREDSPKCKGCFKAIVAGDQNVEYKGTVWQKDCFTCSNCKQVIGTGSFFPK GEDFYCVTCHETKFAKHCVKCNKAITSGGITYQDQPWHADCFVCVTCSKKLAGQRFTAVEDQYYCVDCYKNFVAKKCAGC KNPITGKRTVSRVSHPVSKARKPPVCHGKRLPLTLFPSANLRGRHPGGERTCPSWVVVLYRKNRSLAAPRGPGLVKAPVW WPMKDNPGTTTASTAKNAP*

Gene Symbol:	FHL1
Accession:	NM_001369326
Location:	EXON
Amino Acid Prediction:	H to Q (nonsynonymous)
Amino Acid Position:	123

Amino Acid Sequence (Calculated using NCBI transcript definition)
MAEKFDCHYCRDPLQGKKYVQKDGHHCCLKCFDKFCANTCVECRKPIGADSKEVHYKNRFWHDTCFRCAKCLHPLANETF VAKDNKILCNKCTTREDSPKCKGCFKAIVAGDQNVEYKGTVWQKDCFTCSNCKQVIGTGSFFPKGEDFYCVTCHETKFAK HCVKCNKAITSGGITYQDQPWHADCFVCVTCSKKLAGQRFTAVEDQYYCVDCYKNFVAKKCAGCKNPITGKRTVSRVSHP VSKARKPPVCHGKRLPLTLFPSANLRGRHPGGERTCPSWVVVLYRKNRSLAAPRGPGLVKAPVWWPMKDNPGTTTASTAK NAP*

Gene Symbol:	FHL1
Accession:	XM_047441925
Location:	EXON
Amino Acid Prediction:	H to Q (nonsynonymous)
Amino Acid Position:	123

Amino Acid Sequence (Calculated using NCBI transcript definition)
MAEKFDCHYCRDPLQGKKYVQKDGHHCCLKCFDKFCANTCVECRKPIGADSKEVHYKNRFWHDTCFRCAKCLHPLANETF VAKDNKILCNKCTTREDSPKCKGCFKAIVAGDQNVEYKGTVWQKDCFTCSNCKQVIGTGSFFPKGEDFYCVTCHETKFAK HCVKCNKAITSGGITYQDQPWHADCFVCVTCSKKLAGQRFTAVEDQYYCVDCYKNFVAKKCAGCKNPITGKRTVSRVSHP VSKARKPPVCHGKRLPLTLFPSANLRGRHPGGERTCPSWVVVLYRKNRSLAAPRGPGLVKAPVWWPMKDNPGTTTASTAK NAP*

Gene Symbol:	FHL1
Accession:	NR_027621
Location:	EXON;NON-CODING

Variant Samples

ClinVar GRCh37

ClinVar GRCh38

Additional References at PubMed

PMID:18274675	PMID:19181672	PMID:20633900	PMID:24634512	PMID:28492532

Additional Information

External Database Links

Database	Acc Id	Source(s)
ClinVar	RCV000012318	CLINVAR
	RCV001387579	CLINVAR
dbSNP (RS)	rs267606813	CLINVAR
MedGen	C2678055	CLINVAR
	C4225423	CLINVAR
NCBI Gene	FHL1	CLINVAR
OMIM	300163	CLINVAR
	300696	CLINVAR
	300717	CLINVAR
OMIM Allele	300163.0016	CLINVAR

Gene Annotator (Functional Annotation) unavailable	Gene Annotator (Annotation Distribution) unavailable	Variant Visualizer (Genomic Variants) unavailble Variant Visualizer (Genomic Variants) unavailable
Gene Annotator (Functional Annotation)	Gene Annotator (Annotation Distribution)	Variant Visualizer (Genomic Variants)

InterViewer (Protein-Protein Interactions) unavailable	Gviewer (Genome Viewer) unavailable	Variant Visualizer (Damaging Variants) unavailble Variant Visualizer (Damaging Variants) unavailable
InterViewer (Protein-Protein Interactions)	GViewer (Genome Viewer)	Variant Visualizer (Damaging Variants)

Gene Annotator (Annotation Comparison) unavailable	OLGA (Gene List Generator) unavailable
Gene Annotator (Annotation Comparison)	OLGA (Gene List Generator)	Excel (Download)

MOET (Multi-Ontology Enrichement) unavailable	GOLF (Gene-Ortholog Location Finder) unavailable
MOET (Multi-Ontology Enrichement)	GOLF (Gene-Ortholog Location Finder)

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Variant: RGD:8598727 - Homo sapiens

Imported Disease Annotations - ClinVar