RGD:28873853 Rat Genome Database

Variant: RGD:28873853 - Homo sapiens

RGD ID:

28873853

RS ID:

rs148209555

ClinVar ID:

CV872920

Genic Status:

GENIC

Type:

SNV (SO:0001483)

Associated Genes:

FBLN5

Reference Nucleotide:

Variant Nucleotide:

Position

Assembly	Chr	Position
GRCh37	14	92,353,550
GRCh38	14	91,887,206

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
NM_001384161.1:c.558C>G NP_006320.2:p.Gly242= NP_001371091.1:p.Gly186= NC_000014.9:g.91887206G>C More...	01/12/2018	synonymous variant	uncertain significance

Disease Annotations Click to see Annotation Detail View

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 G (synonymous)
Amino Acid Position:	259

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

Gene Symbol:	FBLN5
Accession:	NM_001384159
Location:	EXON
Amino Acid Prediction:	G to G (synonymous)
Amino Acid Position:	259

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

Gene Symbol:	FBLN5
Accession:	NM_006329
Location:	EXON
Amino Acid Prediction:	G to G (synonymous)
Amino Acid Position:	242

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

Gene Symbol:	FBLN5
Accession:	NM_001384160
Location:	EXON
Amino Acid Prediction:	G to G (synonymous)
Amino Acid Position:	242

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

Gene Symbol:	FBLN5
Accession:	NM_001384162
Location:	EXON
Amino Acid Prediction:	G to G (synonymous)
Amino Acid Position:	186

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

Gene Symbol:	FBLN5
Accession:	NM_001384158
Location:	EXON
Amino Acid Prediction:	G to G (synonymous)
Amino Acid Position:	283

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

Gene Symbol:	FBLN5
Accession:	NM_001384161
Location:	EXON
Amino Acid Prediction:	G to G (synonymous)
Amino Acid Position:	186

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

Variant Samples

ClinVar GRCh37

ClinVar GRCh38

Additional Information

External Database Links

Database	Acc Id	Source(s)
ClinVar	RCV001115208	CLINVAR
	RCV001115209	CLINVAR
dbSNP (RS)	rs148209555	CLINVAR
MedGen	C0010495	CLINVAR
	C1837187	CLINVAR
NCBI Gene	FBLN5	CLINVAR
OMIM	604580	CLINVAR
	608895	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:28873853 - Homo sapiens

Imported Disease Annotations - ClinVar

Imported Human Phenotype Annotations - ClinVar

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Variant: RGD:28873853 - Homo sapiens

Imported Disease Annotations - ClinVar

Imported Human Phenotype Annotations - ClinVar