RGD:13705599 Rat Genome Database

Variant: RGD:13705599 - Homo sapiens

RGD ID:

13705599

RS ID:

rs1556638703

ClinVar ID:

CV537037

Genic Status:

GENIC

Type:

SNV (SO:0001483)

Associated Genes:

FHL1

Reference Nucleotide:

Variant Nucleotide:

Position

Assembly	Chr	Position
GRCh37	X	135,288,710
GRCh38	X	136,206,551

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	Trait Synonyms
NP_001356258.1:p.Cys40Tyr NM_001369327.2:c.119G>A NR_027621.2:n.530G>A NP_001153171.1:p.Cys56Tyr More...	05/14/2018	missense variant	uncertain significance	none provided

Disease Annotations Click to see Annotation Detail View

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

Variant Details

Variant Transcripts

Gene Symbol:	FHL1
Accession:	NM_001159699
Location:	EXON
Amino Acid Prediction:	C to Y (nonsynonymous)
Amino Acid Position:	56

Amino Acid Sequence (Calculated using NCBI transcript definition)
MASHRHSGPSSYKVGTMAEKFDCHYCRDPLQGKKYVQKDGHHCCLKCFDKFCANTYVECRKPIGADSKEVHYKNRFWHDT CFRCAKCLHPLANETFVAKDNKILCNKCTTREDSPKCKGCFKAIVAGDQNVEYKGTVWHKDCFTCSNCKQVIGTGSFFPK GEDFYCVTCHETKFAKHCVKCNKAITSGGITYQDQPWHADCFVCVTCSKKLAGQRFTAVEDQYYCVDCYKNFVAKKCAGC KNPITGFGKGSSVVAYEGQSWHDYCFHCKKCSVNLANKRFVFHQEQVYCPDCAKKL*

Gene Symbol:	FHL1
Accession:	NM_001330659
Location:	EXON
Amino Acid Prediction:	C to Y (nonsynonymous)
Amino Acid Position:	56

Amino Acid Sequence (Calculated using NCBI transcript definition)
MASHRHSGPSSYKVGTMAEKFDCHYCRDPLQGKKYVQKDGHHCCLKCFDKFCANTYVECRKPIGADSKEVHYKNRFWHDT CFRCAKCLHPLANETFVAKDNKILCNKCTTREDSPKCKGCFKAIVAGDQNVEYKGTVWHKDCFTCSNCKQVIGTGSFFPK GEDFYCVTCHETKFAKHCVKCNKGLVKAPVWWPMKDNPGTTTASTAKNAP*

Gene Symbol:	FHL1
Accession:	NM_001159702
Location:	EXON
Amino Acid Prediction:	C to Y (nonsynonymous)
Amino Acid Position:	40

Amino Acid Sequence (Calculated using NCBI transcript definition)
MAEKFDCHYCRDPLQGKKYVQKDGHHCCLKCFDKFCANTYVECRKPIGADSKEVHYKNRFWHDTCFRCAKCLHPLANETF VAKDNKILCNKCTTREDSPKCKGCFKAIVAGDQNVEYKGTVWHKDCFTCSNCKQVIGTGSFFPKGEDFYCVTCHETKFAK HCVKCNKAITSGGITYQDQPWHADCFVCVTCSKKLAGQRFTAVEDQYYCVDCYKNFVAKKCAGCKNPITGKRTVSRVSHP VSKARKPPVCHGKRLPLTLFPSANLRGRHPGGERTCPSWVVVLYRKNRSLAAPRGPGLVKAPVWWPMKDNPGTTTASTAK NAP*

Gene Symbol:	FHL1
Accession:	NM_001159704
Location:	EXON
Amino Acid Prediction:	C to Y (nonsynonymous)
Amino Acid Position:	40

Amino Acid Sequence (Calculated using NCBI transcript definition)
MAEKFDCHYCRDPLQGKKYVQKDGHHCCLKCFDKFCANTYVECRKPIGADSKEVHYKNRFWHDTCFRCAKCLHPLANETF VAKDNKILCNKCTTREDSPKCKGCFKAIVAGDQNVEYKGTVWHKDCFTCSNCKQVIGTGSFFPKGEDFYCVTCHETKFAK HCVKCNKAITSGGITYQDQPWHADCFVCVTCSKKLAGQRFTAVEDQYYCVDCYKNFVAKKCAGCKNPITGFGKGSSVVAY EGQSWHDYCFHCKKCSVNLANKRFVFHQEQVYCPDCAKKL*

Gene Symbol:	FHL1
Accession:	XM_006724743
Location:	EXON
Amino Acid Prediction:	C to Y (nonsynonymous)
Amino Acid Position:	56

Amino Acid Sequence (Calculated using NCBI transcript definition)
MASHRHSGPSSYKVGTMAEKFDCHYCRDPLQGKKYVQKDGHHCCLKCFDKFCANTYVECRKPIGADSKEVHYKNRFWHDT CFRCAKCLHPLANETFVAKDNKILCNKCTTREDSPKCKGCFKAIVAGDQNVEYKGTVWHKDCFTCSNCKQVIGTGSFFPK GEDFYCVTCHETKFAKHCVKCNKAITSGGITYQDQPWHADCFVCVTCSKKLAGQRFTAVEDQYYCVDCYKNFVAKKCAGC KNPITGKRTVSRVSHPVSKARKPPVCHGKRLPLTLFPSANLRGRHPGGERTCPSWVVVLYRKNRSLAAPRGPGLVKAPVW WPMKDNPGTTTASTAKNAP*

Gene Symbol:	FHL1
Accession:	XM_024452354
Location:	EXON
Amino Acid Prediction:	C to Y (nonsynonymous)
Amino Acid Position:	40

Amino Acid Sequence (Calculated using NCBI transcript definition)
MAEKFDCHYCRDPLQGKKYVQKDGHHCCLKCFDKFCANTYVECRKPIGADSKEVHYKNRFWHDTCFRCAKCLHPLANETF VAKDNKILCNKCTTREDSPKCKGCFKAIVAGDQNVEYKGTVWHKDCFTCSNCKQVIGTGSFFPKGEDFYCVTCHETKFAK HCVKCNKAITSGGITYQDQPWHADCFVCVTCSKKLAGQRFTAVEDQYYCVDCYKNFVAKKCAGCKNPITGKRTVSRVSHP VSKARKPPVCHGKRLPLTLFPSANLRGRHPGGERTCPSWVVVLYRKNRSLAAPRGPGLVKAPVWWPMKDNPGTTTASTAK NAP*

Gene Symbol:	FHL1
Accession:	NM_001167819
Location:	EXON
Amino Acid Prediction:	C to Y (nonsynonymous)
Amino Acid Position:	40

Amino Acid Sequence (Calculated using NCBI transcript definition)
MAEKFDCHYCRDPLQGKKYVQKDGHHCCLKCFDKFCANTYVECRKPIGADSKEVHYKNRFWHDTCFRCAKCLHPLANETF VAKDNKILCNKCTTREDSPKCKGCFKAIVAGDQNVEYKGTVWHKDCFTCSNCKQVIGTGSFFPKGEDFYCVTCHETKFAK HCVKCNKAITSGGITYQDQPWHADCFVCVTCSKKLAGQRFTAVEDQYYCVDCYKNFVAKKCAGCKNPITGFGKGSSVVAY EGQSWHDYCFHCKKCSVNLANKRFVFHQEQVYCPDCAKKL*

Gene Symbol:	FHL1
Accession:	NM_001369331
Location:	EXON
Amino Acid Prediction:	C to Y (nonsynonymous)
Amino Acid Position:	40

Amino Acid Sequence (Calculated using NCBI transcript definition)
MAEKFDCHYCRDPLQGKKYVQKDGHHCCLKCFDKFCANTYVECRKPIGADSKEVHYKNRFWHDTCFRCAKCLHPLANETF VAKDNKILCNKCTTREDSPKCKGCFKAIVAGDQNVEYKGTVWHKDCFTCSNCKQVIGTGSFFPKGEDFYCVTCHETKFAK HCVKCNKAITSGGITYQDQPWHADCFVCVTCSKKLAGQRFTAVEDQYYCVDCYKNFVAKKCAGCKNPITGFGKGSSVVAY EGQSWHDYCFHCKKCSVNLANKRFVFHQEQVYCPDCAKKL*

Gene Symbol:	FHL1
Accession:	NM_001159703
Location:	EXON
Amino Acid Prediction:	C to Y (nonsynonymous)
Amino Acid Position:	40

Amino Acid Sequence (Calculated using NCBI transcript definition)
MAEKFDCHYCRDPLQGKKYVQKDGHHCCLKCFDKFCANTYVECRKPIGADSKEVHYKNRFWHDTCFRCAKCLHPLANETF VAKDNKILCNKCTTREDSPKCKGCFKAIVAGDQNVEYKGTVWHKDCFTCSNCKQVIGTGSFFPKGEDFYCVTCHETKFAK HCVKCNKGLVKAPVWWPMKDNPGTTTASTAKNAP*

Gene Symbol:	FHL1
Accession:	NM_001369328
Location:	EXON
Amino Acid Prediction:	C to Y (nonsynonymous)
Amino Acid Position:	40

Amino Acid Sequence (Calculated using NCBI transcript definition)
MAEKFDCHYCRDPLQGKKYVQKDGHHCCLKCFDKFCANTYVECRKPIGADSKEVHYKNRFWHDTCFRCAKCLHPLANETF VAKDNKILCNKCTTREDSPKCKGCFKAIVAGDQNVEYKGTVWHKDCFTCSNCKQVIGTGSFFPKGEDFYCVTCHETKFAK HCVKCNKAITSGGITYQDQPWHADCFVCVTCSKKLAGQRFTAVEDQYYCVDCYKNFVAKKCAGCKNPITGKRTVSRVSHP VSKARKPPVCHGKRLPLTLFPSANLRGRHPGGERTCPSWVVVLYRKNRSLAAPRGPGLVKAPVWWPMKDNPGTTTASTAK NAP*

Gene Symbol:	FHL1
Accession:	NM_001369326
Location:	EXON
Amino Acid Prediction:	C to Y (nonsynonymous)
Amino Acid Position:	40

Amino Acid Sequence (Calculated using NCBI transcript definition)
MAEKFDCHYCRDPLQGKKYVQKDGHHCCLKCFDKFCANTYVECRKPIGADSKEVHYKNRFWHDTCFRCAKCLHPLANETF VAKDNKILCNKCTTREDSPKCKGCFKAIVAGDQNVEYKGTVWHKDCFTCSNCKQVIGTGSFFPKGEDFYCVTCHETKFAK HCVKCNKAITSGGITYQDQPWHADCFVCVTCSKKLAGQRFTAVEDQYYCVDCYKNFVAKKCAGCKNPITGKRTVSRVSHP VSKARKPPVCHGKRLPLTLFPSANLRGRHPGGERTCPSWVVVLYRKNRSLAAPRGPGLVKAPVWWPMKDNPGTTTASTAK NAP*

Gene Symbol:	FHL1
Accession:	NM_001449
Location:	EXON
Amino Acid Prediction:	C to Y (nonsynonymous)
Amino Acid Position:	40

Amino Acid Sequence (Calculated using NCBI transcript definition)
MAEKFDCHYCRDPLQGKKYVQKDGHHCCLKCFDKFCANTYVECRKPIGADSKEVHYKNRFWHDTCFRCAKCLHPLANETF VAKDNKILCNKCTTREDSPKCKGCFKAIVAGDQNVEYKGTVWHKDCFTCSNCKQVIGTGSFFPKGEDFYCVTCHETKFAK HCVKCNKAITSGGITYQDQPWHADCFVCVTCSKKLAGQRFTAVEDQYYCVDCYKNFVAKKCAGCKNPITGFGKGSSVVAY EGQSWHDYCFHCKKCSVNLANKRFVFHQEQVYCPDCAKKL*

Gene Symbol:	FHL1
Accession:	NM_001369327
Location:	EXON
Amino Acid Prediction:	C to Y (nonsynonymous)
Amino Acid Position:	40

Amino Acid Sequence (Calculated using NCBI transcript definition)
MAEKFDCHYCRDPLQGKKYVQKDGHHCCLKCFDKFCANTYVECRKPIGADSKEVHYKNRFWHDTCFRCAKCLHPLANETF VAKDNKILCNKCTTREDSPKCKGCFKAIVAGDQNVEYKGTVWHKDCFTCSNCKQVIGTGSFFPKGEDFYCVTCHETKFAK HCVKCNKAITSGGITYQDQPWHADCFVCVTCSKKLAGQRFTAVEDQYYCVDCYKNFVAKKCAGCKNPITGKRTVSRVSHP VSKARKPPVCHGKRLPLTLFPSANLRGRHPGGERTCPSWVVVLYRKNRSLAAPRGPGLVKAPVWWPMKDNPGTTTASTAK NAP*

Gene Symbol:	FHL1
Accession:	NM_001159701
Location:	EXON
Amino Acid Prediction:	C to Y (nonsynonymous)
Amino Acid Position:	69

Amino Acid Sequence (Calculated using NCBI transcript definition)
MTFYVASLALELIWMLSSPAGPSSYKVGTMAEKFDCHYCRDPLQGKKYVQKDGHHCCLKCFDKFCANTYVECRKPIGADS KEVHYKNRFWHDTCFRCAKCLHPLANETFVAKDNKILCNKCTTREDSPKCKGCFKAIVAGDQNVEYKGTVWHKDCFTCSN CKQVIGTGSFFPKGEDFYCVTCHETKFAKHCVKCNKAITSGGITYQDQPWHADCFVCVTCSKKLAGQRFTAVEDQYYCVD CYKNFVAKKCAGCKNPITGFGKGSSVVAYEGQSWHDYCFHCKKCSVNLANKRFVFHQEQVYCPDCAKKL*

Gene Symbol:	FHL1
Accession:	XM_047441925
Location:	EXON
Amino Acid Prediction:	C to Y (nonsynonymous)
Amino Acid Position:	40

Amino Acid Sequence (Calculated using NCBI transcript definition)
MAEKFDCHYCRDPLQGKKYVQKDGHHCCLKCFDKFCANTYVECRKPIGADSKEVHYKNRFWHDTCFRCAKCLHPLANETF VAKDNKILCNKCTTREDSPKCKGCFKAIVAGDQNVEYKGTVWHKDCFTCSNCKQVIGTGSFFPKGEDFYCVTCHETKFAK HCVKCNKAITSGGITYQDQPWHADCFVCVTCSKKLAGQRFTAVEDQYYCVDCYKNFVAKKCAGCKNPITGKRTVSRVSHP VSKARKPPVCHGKRLPLTLFPSANLRGRHPGGERTCPSWVVVLYRKNRSLAAPRGPGLVKAPVWWPMKDNPGTTTASTAK NAP*

Gene Symbol:	FHL1
Accession:	NM_001159700
Location:	EXON
Amino Acid Prediction:	C to Y (nonsynonymous)
Amino Acid Position:	40

Amino Acid Sequence (Calculated using NCBI transcript definition)
MAEKFDCHYCRDPLQGKKYVQKDGHHCCLKCFDKFCANTYVECRKPIGADSKEVHYKNRFWHDTCFRCAKCLHPLANETF VAKDNKILCNKCTTREDSPKCKGCFKAIVAGDQNVEYKGTVWHKDCFTCSNCKQVIGTGSFFPKGEDFYCVTCHETKFAK HCVKCNKAITSGGITYQDQPWHADCFVCVTCSKKLAGQRFTAVEDQYYCVDCYKNFVAKKCAGCKNPITGFGKGSSVVAY EGQSWHDYCFHCKKCSVNLANKRFVFHQEQVYCPDCAKKL*

Gene Symbol:	FHL1
Accession:	NM_001369329
Location:	EXON
Amino Acid Prediction:	C to Y (nonsynonymous)
Amino Acid Position:	40

Amino Acid Sequence (Calculated using NCBI transcript definition)
MAEKFDCHYCRDPLQGKKYVQKDGHHCCLKCFDKFCANTYVECRKPIGADSKEVHYKNRFWHDTCFRCAKCLHPLANETF VAKDNKILCNKCTTREDSPKCKGCFKAIVAGDQNVEYKGTVWHKDCFTCSNCKQVIGTGSFFPKGEDFYCVTCHETKFAK HCVKCNKAITSGGITYQDQPWHADCFVCVTCSKKLAGQRFTAVEDQYYCVDCYKNFVAKKCAGCKNPITGFGKGSSVVAY EGQSWHDYCFHCKKCSVNLANKRFVFHQEQVYCPDCAKKL*

Gene Symbol:	FHL1
Accession:	XM_047441927
Location:	EXON
Amino Acid Prediction:	C to Y (nonsynonymous)
Amino Acid Position:	40

Amino Acid Sequence (Calculated using NCBI transcript definition)
MAEKFDCHYCRDPLQGKKYVQKDGHHCCLKCFDKFCANTYVECRKPIGADSKEVHYKNRFWHDTCFRCAKCLHPLANETF VAKDNKILCNKCTTREDSPKCKGCFKAIVAGDQNVEYKGTVWHKDCFTCSNCKQVIGTGSFFPKGEDFYCVTCHETKFAK HCVKCNKAITSGGITYQDQPWHADCFVCVTCSKKLAGQRFTAVEDQYYCVDCYKNFVAKKCAGCKNPITGFGKGSSVVAY EGQSWHDYCFHCKKCSVNLANKRFVFHQEQVYCPDCAKKL*

Gene Symbol:	FHL1
Accession:	XM_006724746
Location:	EXON
Amino Acid Prediction:	C to Y (nonsynonymous)
Amino Acid Position:	40

Amino Acid Sequence (Calculated using NCBI transcript definition)
MAEKFDCHYCRDPLQGKKYVQKDGHHCCLKCFDKFCANTYVECRKPIGADSKEVHYKNRFWHDTCFRCAKCLHPLANETF VAKDNKILCNKCTTREDSPKCKGCFKAIVAGDQNVEYKGTVWHKDCFTCSNCKQVIGTGSFFPKGEDFYCVTCHETKFAK HCVKCNKAITSGGITYQDQPWHADCFVCVTCSKKLAGQRFTAVEDQYYCVDCYKNFVAKKCAGCKNPITGKRTVSRVSHP VSKARKPPVCHGKRLPLTLFPSANLRGRHPGGERTCPSWVVVLYRKNRSLAAPRGPGLVKAPVWWPMKDNPGTTTASTAK NAP*

Gene Symbol:	FHL1
Accession:	NM_001369330
Location:	EXON
Amino Acid Prediction:	C to Y (nonsynonymous)
Amino Acid Position:	40

Amino Acid Sequence (Calculated using NCBI transcript definition)
MAEKFDCHYCRDPLQGKKYVQKDGHHCCLKCFDKFCANTYVECRKPIGADSKEVHYKNRFWHDTCFRCAKCLHPLANETF VAKDNKILCNKCTTREDSPKCKGCFKAIVAGDQNVEYKGTVWHKDCFTCSNCKQVIGTGSFFPKGEDFYCVTCHETKFAK HCVKCNKAITSGGITYQDQPWHADCFVCVTCSKKLAGQRFTAVEDQYYCVDCYKNFVAKKCAGCKNPITGFGKGSSVVAY EGQSWHDYCFHCKKCSVNLANKRFVFHQEQVYCPDCAKKL*

Gene Symbol:	FHL1
Accession:	XM_047441926
Location:	EXON
Amino Acid Prediction:	C to Y (nonsynonymous)
Amino Acid Position:	40

Amino Acid Sequence (Calculated using NCBI transcript definition)
MAEKFDCHYCRDPLQGKKYVQKDGHHCCLKCFDKFCANTYVECRKPIGADSKEVHYKNRFWHDTCFRCAKCLHPLANETF VAKDNKILCNKCTTREDSPKCKGCFKAIVAGDQNVEYKGTVWHKDCFTCSNCKQVIGTGSFFPKGEDFYCVTCHETKFAK HCVKCNKAITSGGITYQDQPWHADCFVCVTCSKKLAGQRFTAVEDQYYCVDCYKNFVAKKCAGCKNPITGKRTVSRVSHP VSKARKPPVCHGKRLPLTLFPSANLRGRHPGGERTCPSWVVVLYRKNRSLAAPRGPGLVKAPVWWPMKDNPGTTTASTAK NAP*

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

Variant Samples

ClinVar GRCh37

ClinVar GRCh38

Additional References at PubMed

PMID:28492532

Additional Information

External Database Links

Database	Acc Id	Source(s)
ClinVar	RCV000658161	CLINVAR
	RCV000707679	CLINVAR
dbSNP (RS)	rs1556638703	CLINVAR
MedGen	C2678055	CLINVAR
	C3661900	CLINVAR
NCBI Gene	FHL1	CLINVAR
OMIM	300163	CLINVAR
	300696	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:13705599 - Homo sapiens

Imported Disease Annotations - ClinVar