RGD:10449603 Rat Genome Database

Variant: RGD:10449603 - Homo sapiens

RGD ID:

10449603

RS ID:

rs144288844

ClinVar ID:

CV215086

Genic Status:

GENIC

Type:

SNV (SO:0001483)

Associated Genes:

FBLN5

Reference Nucleotide:

Variant Nucleotide:

Position

Assembly	Chr	Position
GRCh37	14	92,403,402
GRCh38	14	91,937,058

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
LRG_364t1:c.268G>A LRG_364:g.15645G>A NG_008254.1:g.15645G>A NC_000014.9:g.91937058C>T More...	03/11/2019	missense variant	pathogenic\|benign\|likely benign\|uncertain significance\|not provided	all ages	<1 / 1 000 000	Autosomal recessive cutis laxa type IA; Charcot-Marie-Tooth disease, demyelinating, type 1H; CHARCOT-MARIE-TOOTH NEUROPATHY, TYPE 1H; Cutis laxa, autosomal dominant 2; HEREDITARY MOTOR AND SENSORY NEUROPATHY, IH; NEUROPATHY, HEREDITARY, WITH OR WITHOUT AGE-RELATED MACULAR DEGENERATION; none provided

Disease Annotations Click to see Annotation Detail View

autosomal dominant cutis laxa 2 (IAGP)

autosomal recessive cutis laxa type IA (IAGP)

Charcot-Marie-Tooth Disease Type 1H (IAGP)

cutis laxa (IAGP)

Phenotype Annotations Click to see Annotation Detail View

Human Phenotype

Cutis laxa (IAGP)

Variant Details

Variant Transcripts

Gene Symbol:	FBLN5
Accession:	XM_011536356
Location:	EXON
Amino Acid Prediction:	G to S (nonsynonymous)
Amino Acid Position:	107

Amino Acid Sequence (Calculated using NCBI transcript definition)
MFVWDSHRSFKPMRSGNCRQRYMILTVTILALCLPSPGNAQAQCTNGFDLDRQSGQCLDIDECRTIPEACRGDMMCVNQN GGYLCIPRTNPVYRGPYSNPYSTPYSSPYPAAAPPLSAPNYPTISRPLICRFGYQMDESNQCVDVDECATDSHQCNPTQI CINTEGGYTCSCTDGYWLLEGQCLDIDECRYGYCQQLCANVPGSYSCTCNPGFTLNEDGRSCQDVNECATENPCVQTCVN TYGSFICRCDPGYELEEDGVHCSDMDECSFSEFLCQHECVNQPGTYFCSCPPGYILLDDNRSCQDINECEHRNHTCNLQQ TCYNLQGGFKCIDPIRCEEPYLRISDNRCMCPAENPGCRDQPFTILYRDMDVVSGRSVPADIFQMQATTRYPGAYYIFQI KSGNEGREFYMRRAFSTTAYEASSQALSVEKQTGCGLCPGGTHTHLSGEGENNLANTTQSGDSQVKSRPMGCKRAPSVPP W*

Gene Symbol:	FBLN5
Accession:	NM_006329
Location:	EXON
Amino Acid Prediction:	G to S (nonsynonymous)
Amino Acid Position:	90

Amino Acid Sequence (Calculated using NCBI transcript definition)
MPGIKRILTVTILALCLPSPGNAQAQCTNGFDLDRQSGQCLDIDECRTIPEACRGDMMCVNQNGGYLCIPRTNPVYRGPY SNPYSTPYSSPYPAAAPPLSAPNYPTISRPLICRFGYQMDESNQCVDVDECATDSHQCNPTQICINTEGGYTCSCTDGYW LLEGQCLDIDECRYGYCQQLCANVPGSYSCTCNPGFTLNEDGRSCQDVNECATENPCVQTCVNTYGSFICRCDPGYELEE DGVHCSDMDECSFSEFLCQHECVNQPGTYFCSCPPGYILLDDNRSCQDINECEHRNHTCNLQQTCYNLQGGFKCIDPIRC EEPYLRISDNRCMCPAENPGCRDQPFTILYRDMDVVSGRSVPADIFQMQATTRYPGAYYIFQIKSGNEGREFYMRQTGPI SATLVMTRPIKGPREIQLDLEMITVNTVINFRGSSVIRLRIYVSQYPF*

Gene Symbol:	FBLN5
Accession:	NM_001384161
Location:	EXON
Amino Acid Prediction:	G to S (nonsynonymous)
Amino Acid Position:	34

Amino Acid Sequence (Calculated using NCBI transcript definition)
MMCVNQNGGYLCIPRTNPVYRGPYSNPYSTPYSSPYPAAAPPLSAPNYPTISRPLICRFGYQMDESNQCVDVDECATDSH QCNPTQICINTEGGYTCSCTDGYWLLEGQCLDIDECRYGYCQQLCANVPGSYSCTCNPGFTLNEDGRSCQDVNECATENP CVQTCVNTYGSFICRCDPGYELEEDGVHCSDMDECSFSEFLCQHECVNQPGTYFCSCPPGYILLDDNRSCQDINECEHRN HTCNLQQTCYNLQGGFKCIDPIRCEEPYLRISDNRCMCPAENPGCRDQPFTILYRDMDVVSGRSVPADIFQMQATTRYPG AYYIFQIKSGNEGREFYMRRAFSTTAYEASSQALSVEKQTGCGLCPGGTHTHLSGEGENNLANTTQSGDSQVKSRPMGCK RAPSVPPW*

Gene Symbol:	FBLN5
Accession:	NM_001384159
Location:	EXON
Amino Acid Prediction:	G to S (nonsynonymous)
Amino Acid Position:	107

Amino Acid Sequence (Calculated using NCBI transcript definition)
MFVWDSHRSFKPMRSGNCRQRYMILTVTILALCLPSPGNAQAQCTNGFDLDRQSGQCLDIDECRTIPEACRGDMMCVNQN GGYLCIPRTNPVYRGPYSNPYSTPYSSPYPAAAPPLSAPNYPTISRPLICRFGYQMDESNQCVDVDECATDSHQCNPTQI CINTEGGYTCSCTDGYWLLEGQCLDIDECRYGYCQQLCANVPGSYSCTCNPGFTLNEDGRSCQDVNECATENPCVQTCVN TYGSFICRCDPGYELEEDGVHCSDMDECSFSEFLCQHECVNQPGTYFCSCPPGYILLDDNRSCQDINECEHRNHTCNLQQ TCYNLQGGFKCIDPIRCEEPYLRISDNRCMCPAENPGCRDQPFTILYRDMDVVSGRSVPADIFQMQATTRYPGAYYIFQI KSGNEGREFYMRQTGPISATLVMTRPIKGPREIQLDLEMITVNTVINFRGSSVIRLRIYVSQYPF*

Gene Symbol:	FBLN5
Accession:	NM_001384158
Location:	EXON
Amino Acid Prediction:	G to S (nonsynonymous)
Amino Acid Position:	131

Amino Acid Sequence (Calculated using NCBI transcript definition)
MPGIKRILTVTILALCLPSPGNAQAQCTNGFDLDRQSGQCLDGVSLSSPRLECNGAISAHCNLCLPGSSDSSASASQVAG ITDIDECRTIPEACRGDMMCVNQNGGYLCIPRTNPVYRGPYSNPYSTPYSSPYPAAAPPLSAPNYPTISRPLICRFGYQM DESNQCVDVDECATDSHQCNPTQICINTEGGYTCSCTDGYWLLEGQCLDIDECRYGYCQQLCANVPGSYSCTCNPGFTLN EDGRSCQDVNECATENPCVQTCVNTYGSFICRCDPGYELEEDGVHCSDMDECSFSEFLCQHECVNQPGTYFCSCPPGYIL LDDNRSCQDINECEHRNHTCNLQQTCYNLQGGFKCIDPIRCEEPYLRISDNRCMCPAENPGCRDQPFTILYRDMDVVSGR SVPADIFQMQATTRYPGAYYIFQIKSGNEGREFYMRQTGPISATLVMTRPIKGPREIQLDLEMITVNTVINFRGSSVIRL RIYVSQYPF*

Gene Symbol:	FBLN5
Accession:	NM_001384162
Location:	EXON
Amino Acid Prediction:	G to S (nonsynonymous)
Amino Acid Position:	34

Amino Acid Sequence (Calculated using NCBI transcript definition)
MMCVNQNGGYLCIPRTNPVYRGPYSNPYSTPYSSPYPAAAPPLSAPNYPTISRPLICRFGYQMDESNQCVDVDECATDSH QCNPTQICINTEGGYTCSCTDGYWLLEGQCLDIDECRYGYCQQLCANVPGSYSCTCNPGFTLNEDGRSCQDVNECATENP CVQTCVNTYGSFICRCDPGYELEEDGVHCSDMDECSFSEFLCQHECVNQPGTYFCSCPPGYILLDDNRSCQDINECEHRN HTCNLQQTCYNLQGGFKCIDPIRCEEPYLRISDNRCMCPAENPGCRDQPFTILYRDMDVVSGRSVPADIFQMQATTRYPG AYYIFQIKSGNEGREFYMRQTGPISATLVMTRPIKGPREIQLDLEMITVNTVINFRGSSVIRLRIYVSQYPF*

Gene Symbol:	FBLN5
Accession:	NM_001384160
Location:	EXON
Amino Acid Prediction:	G to S (nonsynonymous)
Amino Acid Position:	90

Amino Acid Sequence (Calculated using NCBI transcript definition)
MPGIKRILTVTILALCLPSPGNAQAQCTNGFDLDRQSGQCLDIDECRTIPEACRGDMMCVNQNGGYLCIPRTNPVYRGPY SNPYSTPYSSPYPAAAPPLSAPNYPTISRPLICRFGYQMDESNQCVDVDECATDSHQCNPTQICINTEGGYTCSCTDGYW LLEGQCLDIDECRYGYCQQLCANVPGSYSCTCNPGFTLNEDGRSCQDVNECATENPCVQTCVNTYGSFICRCDPGYELEE DGVHCSDMDECSFSEFLCQHECVNQPGTYFCSCPPGYILLDDNRSCQDINECEHRNHTCNLQQTCYNLQGGFKCIDPIRC EEPYLRISDNRCMCPAENPGCRDQPFTILYRDMDVVSGRSVPADIFQMQATTRYPGAYYIFQIKSGNEGREFYMRRAFST TAYEASSQALSVEKQTGCGLCPGGTHTHLSGEGENNLANTTQSGDSQVKSRPMGCKRAPSVPPW*

Variant Samples

ClinVar GRCh37

ClinVar GRCh38

Additional References at PubMed

PMID:21576112	PMID:25741868	PMID:28492532	PMID:29653220	PMID:32802946

Additional Information

External Database Links

Database	Acc Id	Source(s)
ClinVar	RCV000202614	CLINVAR
	RCV000521928	CLINVAR
	RCV001121879	CLINVAR
	RCV001249315	CLINVAR
	RCV001843303	CLINVAR
	RCV003447125	CLINVAR
dbSNP (RS)	rs144288844	CLINVAR
MedGen	C0010495	CLINVAR
	C0268351	CLINVAR
	C1837187	CLINVAR
	C3661900	CLINVAR
	C5190690	CLINVAR
	C5676926	CLINVAR
NCBI Gene	FBLN5	CLINVAR
OMIM	219100	CLINVAR
	604580	CLINVAR
	608895	CLINVAR
	614434	CLINVAR
	619764	CLINVAR
OMIM Allele	604580.0013	CLINVAR
SNOMED CT	58588007	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)

Variant: RGD:10449603 - Homo sapiens

Imported Disease Annotations - ClinVar

Imported Human Phenotype Annotations - ClinVar

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Variant: RGD:10449603 - Homo sapiens

Imported Disease Annotations - ClinVar

Imported Human Phenotype Annotations - ClinVar