RGD:13467271 Rat Genome Database

Variant: RGD:13467271 - Homo sapiens

RGD ID:

13467271

RS ID:

rs368721486

ClinVar ID:

CV440217

Genic Status:

GENIC

Type:

SNV (SO:0001483)

Associated Genes:

FUZ

Reference Nucleotide:

Variant Nucleotide:

Position

Assembly	Chr	Position
GRCh37	19	50,312,016
GRCh38	19	49,808,759

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
NC_000019.9:g.50312016C>A NG_032843.1:g.9552G>T NC_000019.10:g.49808759C>A NP_079405.2:p.Arg284Leu More...	06/01/2017	missense variant	conflicting interpretations of pathogenicity\|uncertain significance	Chondroectodermal dysplasia-like syndrome; Infantile thoracic dystrophy; Jeune syndrome; Jeune's syndrome; Short-rib thoracic dysplasia; Thoracic pelvic phalangeal dystrophy

Disease Annotations Click to see Annotation Detail View

asphyxiating thoracic dystrophy (IAGP)

Variant Details

Variant Transcripts

Gene Symbol:	FUZ
Accession:	NM_001171937
Location:	EXON
Amino Acid Prediction:	R to L (nonsynonymous)
Amino Acid Position:	248

Amino Acid Sequence (Calculated using NCBI transcript definition)
MGEEGTGGTVHLLCLAASSGVPLFCRSSRGGAPARQQLPFSVIGSLNGVHMFGQNLEVQLSSARTENTTVVLLVGLEELT NIRNVERLKKDLRASYCLIDSFLGDSELIGDLTQCVDCVIPPEGSLLQEALSGFAEAAGTTFVSLVVSGRVVAATEGWWR LGTPEAVLLPWLVGSLPPQTARDYPVYLPHGSPTVPHRLLTLTLLPSLELCLLCGPSPPLSQLYPQLLERWWQPLLDPLR ACLPLGPLALPSGFPLHTDILGLLLLHLELKRCLFTVEPLGDKEPSPEQRRRLLRNFYTLVTSTHFPPEPGPPEKTEDEV YQAQLPRACYLVLGTEEPGTGVRLVALQLGLRRLLLLLSPQSPTHGLRSLATHTLHALTPLL*

Gene Symbol:	FUZ
Accession:	NM_025129
Location:	EXON
Amino Acid Prediction:	R to L (nonsynonymous)
Amino Acid Position:	284

Amino Acid Sequence (Calculated using NCBI transcript definition)
MGEEGTGGTVHLLCLAASSGVPLFCRSSRGGAPARQQLPFSVIGSLNGVHMFGQNLEVQLSSARTENTTVVWKSFHDSIT LIVLSSEVGISELRLERLLQMVFGAMVLLVGLEELTNIRNVERLKKDLRASYCLIDSFLGDSELIGDLTQCVDCVIPPEG SLLQEALSGFAEAAGTTFVSLVVSGRVVAATEGWWRLGTPEAVLLPWLVGSLPPQTARDYPVYLPHGSPTVPHRLLTLTL LPSLELCLLCGPSPPLSQLYPQLLERWWQPLLDPLRACLPLGPLALPSGFPLHTDILGLLLLHLELKRCLFTVEPLGDKE PSPEQRRRLLRNFYTLVTSTHFPPEPGPPEKTEDEVYQAQLPRACYLVLGTEEPGTGVRLVALQLGLRRLLLLLSPQSPT HGLRSLATHTLHALTPLL*

Gene Symbol:	FUZ
Accession:	XM_011527346
Location:	EXON
Amino Acid Prediction:	R to L (nonsynonymous)
Amino Acid Position:	184

Amino Acid Sequence (Calculated using NCBI transcript definition)
MVFGAMVLLVGLEELTNIRNVERLKKDLRASYCLIDSFLGDSELIGDLTQCVDCVIPPEGSLLQEALSGFAEAAGTTFVS LVVSGRVVAATEGWWRLGTPEAVLLPWLVGSLPPQTARDYPVYLPHGSPTVPHRLLTLTLLPSLELCLLCGPSPPLSQLY PQLLERWWQPLLDPLRACLPLGPLALPSGFPLHTDILGLLLLHLELKRCLFTVEPLGDKAEPSPEQRRRLLRNFYTLVTS THFPPEPGPPEKTEDEVYQAQLPRACYLVLGTEEPGTGVRLVALQLGLRRLLLLLSPQSPTHGLRSLATHTLHALTPLL*

Gene Symbol:	FUZ
Accession:	NM_001352262
Location:	EXON
Amino Acid Prediction:	R to L (nonsynonymous)
Amino Acid Position:	284

Amino Acid Sequence (Calculated using NCBI transcript definition)
MGEEGTGGTVHLLCLAASSGVPLFCRSSRGGAPARQQLPFSVIGSLNGVHMFGQNLEVQLSSARTENTTVVWKSFHDSIT LIVLSSEVGISELRLERLLQMVFGAMVLLVGLEELTNIRNVERLKKDLRASYCLIDSFLGDSELIGDLTQCVDCVIPPEG SLLQEALSGFAEAAGTTFVSLVVSGRVVAATEGWWRLGTPEAVLLPWLVGSLPPQTARDYPVYLPHGSPTVPHRLLTLTL LPSLELCLLCGPSPPLSQLYPQLLERWWQPLLDPLRACLPLGPLALPSGFPLHTDILGLLLLHLELKRCLFTVEPLGDKA EPSPEQRRRLLRNFYTLVTSTHFPPEPGPPEKTEDEVYQAQLPRACYLVLGTEEPGTGVRLVALQLGLRRLLLLLSPQSP THGLRSLATHTLHALTPLL*

Gene Symbol:	FUZ
Accession:	XM_024451730
Location:	EXON
Amino Acid Prediction:	R to L (nonsynonymous)
Amino Acid Position:	227

Amino Acid Sequence (Calculated using NCBI transcript definition)
MGSLASQLPSLIPDVLYKKGSITLIVLSSEVGISELRLERLLQMVFGAMVLLVGLEELTNIRNVERLKKDLRASYCLIDS FLGDSELIGDLTQCVDCVIPPEGSLLQEALSGFAEAAGTTFVSLVVSGRVVAATEGWWRLGTPEAVLLPWLVGSLPPQTA RDYPVYLPHGSPTVPHRLLTLTLLPSLELCLLCGPSPPLSQLYPQLLERWWQPLLDPLRACLPLGPLALPSGFPLHTDIL GLLLLHLELKRCLFTVEPLGDKEPSPEQRRRLLRNFYTLVTSTHFPPEPGPPEKTEDEVYQAQLPRACYLVLGTEEPGTG VRLVALQLGLRRLLLLLSPQSPTHGLRSLATHTLHALTPLL*

Gene Symbol:	FUZ
Accession:	NM_001363663
Location:	EXON
Amino Acid Prediction:	R to L (nonsynonymous)
Amino Acid Position:	234

Amino Acid Sequence (Calculated using NCBI transcript definition)
MFGQNLEVQLSSARTENTTVVWKSFHDSITLIVLSSEVGISELRLERLLQMVFGAMVLLVGLEELTNIRNVERLKKDLRA SYCLIDSFLGDSELIGDLTQCVDCVIPPEGSLLQEALSGFAEAAGTTFVSLVVSGRVVAATEGWWRLGTPEAVLLPWLVG SLPPQTARDYPVYLPHGSPTVPHRLLTLTLLPSLELCLLCGPSPPLSQLYPQLLERWWQPLLDPLRACLPLGPLALPSGF PLHTDILGLLLLHLELKRCLFTVEPLGDKEPSPEQRRRLLRNFYTLVTSTHFPPEPGPPEKTEDEVYQAQLPRACYLVLG TEEPGTGVRLVALQLGLRRLLLLLSPQSPTHGLRSLATHTLHALTPLL*

Gene Symbol:	FUZ
Accession:	XM_011527340
Location:	EXON
Amino Acid Prediction:	R to L (nonsynonymous)
Amino Acid Position:	234

Amino Acid Sequence (Calculated using NCBI transcript definition)
MFGQNLEVQLSSARTENTTVVWKSFHDSITLIVLSSEVGISELRLERLLQMVFGAMVLLVGLEELTNIRNVERLKKDLRA SYCLIDSFLGDSELIGDLTQCVDCVIPPEGSLLQEALSGFAEAAGTTFVSLVVSGRVVAATEGWWRLGTPEAVLLPWLVG SLPPQTARDYPVYLPHGSPTVPHRLLTLTLLPSLELCLLCGPSPPLSQLYPQLLERWWQPLLDPLRACLPLGPLALPSGF PLHTDILGLLLLHLELKRCLFTVEPLGDKAEPSPEQRRRLLRNFYTLVTSTHFPPEPGPPEKTEDEVYQAQLPRACYLVL GTEEPGTGVRLVALQLGLRRLLLLLSPQSPTHGLRSLATHTLHALTPLL*

Gene Symbol:	FUZ
Accession:	XM_047439462
Location:	EXON
Amino Acid Prediction:	R to L (nonsynonymous)
Amino Acid Position:	284

Amino Acid Sequence (Calculated using NCBI transcript definition)
MGEEGTGGTVHLLCLAASSGVPLFCRSSRGGAPARQQLPFSVIGSLNGVHMFGQNLEVQLSSARTENTTVVWKSFHDSIT LIVLSSEVGISELRLERLLQMVFGAMVLLVGLEELTNIRNVERLKKDLRASYCLIDSFLGDSELIGDLTQCVDCVIPPEG SLLQEALSGFAEAAGTTFVSLVVSGRVVAATEGWWRLGTPEAVLLPWLVGSLPPQTARDYPVYLPHGSPTVPHRLLTLTL LPSLELCLLCGPSPPLSQLYPQLLERWWQPLLDPLRACLPLGPLALPSGFPLHTDILGLLLLHLELKRCLFTVEPLGDKE PSPEQRRRLLRNFYTLVTSTHFPPVPLHVMKE*

Gene Symbol:	FUZ
Accession:	XM_047439463
Location:	EXON
Amino Acid Prediction:	R to L (nonsynonymous)
Amino Acid Position:	184

Amino Acid Sequence (Calculated using NCBI transcript definition)
MVFGAMVLLVGLEELTNIRNVERLKKDLRASYCLIDSFLGDSELIGDLTQCVDCVIPPEGSLLQEALSGFAEAAGTTFVS LVVSGRVVAATEGWWRLGTPEAVLLPWLVGSLPPQTARDYPVYLPHGSPTVPHRLLTLTLLPSLELCLLCGPSPPLSQLY PQLLERWWQPLLDPLRACLPLGPLALPSGFPLHTDILGLLLLHLELKRCLFTVEPLGDKAEPSPEQRRRLLRNFYTLVTS THFPPEPGPPEKTEDEVYQAQLPRACYLVLGTEEPGTGVRLVALQLGLRRLLLLLSPQSPTHGLRSLATHTLHALTPLL*

Gene Symbol:	FUZ
Accession:	XM_011527343
Location:	EXON
Amino Acid Prediction:	R to L (nonsynonymous)
Amino Acid Position:	284

Amino Acid Sequence (Calculated using NCBI transcript definition)
MGEEGTGGTVHLLCLAASSGVPLFCRSSRGGAPARQQLPFSVIGSLNGVHMFGQNLEVQLSSARTENTTVVWKSFHDSIT LIVLSSEVGISELRLERLLQMVFGAMVLLVGLEELTNIRNVERLKKDLRASYCLIDSFLGDSELIGDLTQCVDCVIPPEG SLLQEALSGFAEAAGTTFVSLVVSGRVVAATEGWWRLGTPEAVLLPWLVGSLPPQTARDYPVYLPHGSPTVPHRLLTLTL LPSLELCLLCGPSPPLSQLYPQLLERWWQPLLDPLRACLPLGPLALPSGFPLHTDILGLLLLHLELKRCLFTVEPLGDKA EPSPEQRRRLLRNFYTLVTSTHFPPVPLHVMKE*

Gene Symbol:	FUZ
Accession:	XM_011527341
Location:	EXON
Amino Acid Prediction:	R to L (nonsynonymous)
Amino Acid Position:	234

Amino Acid Sequence (Calculated using NCBI transcript definition)
MFGQNLEVQLSSARTENTTVVWKSFHDSITLIVLSSEVGISELRLERLLQMVFGAMVLLVGLEELTNIRNVERLKKDLRA SYCLIDSFLGDSELIGDLTQCVDCVIPPEGSLLQEALSGFAEAAGTTFVSLVVSGRVVAATEGWWRLGTPEAVLLPWLVG SLPPQTARDYPVYLPHGSPTVPHRLLTLTLLPSLELCLLCGPSPPLSQLYPQLLERWWQPLLDPLRACLPLGPLALPSGF PLHTDILGLLLLHLELKRCLFTVEPLGDKAEPSPEQRRRLLRNFYTLVTSTHFPPEPGPPEKTEDEVYQAQLPRACYLVL GTEEPGTGVRLVALQLGLRRLLLLLSPQSPTHGLRSLATHTLHALTPLL*

Gene Symbol:	FUZ
Accession:	XM_024451729
Location:	EXON
Amino Acid Prediction:	R to L (nonsynonymous)
Amino Acid Position:	227

Amino Acid Sequence (Calculated using NCBI transcript definition)
MGSLASQLPSLIPDVLYKKGSITLIVLSSEVGISELRLERLLQMVFGAMVLLVGLEELTNIRNVERLKKDLRASYCLIDS FLGDSELIGDLTQCVDCVIPPEGSLLQEALSGFAEAAGTTFVSLVVSGRVVAATEGWWRLGTPEAVLLPWLVGSLPPQTA RDYPVYLPHGSPTVPHRLLTLTLLPSLELCLLCGPSPPLSQLYPQLLERWWQPLLDPLRACLPLGPLALPSGFPLHTDIL GLLLLHLELKRCLFTVEPLGDKAEPSPEQRRRLLRNFYTLVTSTHFPPEPGPPEKTEDEVYQAQLPRACYLVLGTEEPGT GVRLVALQLGLRRLLLLLSPQSPTHGLRSLATHTLHALTPLL*

Gene Symbol:	FUZ
Accession:	XM_017027320
Location:	EXON
Amino Acid Prediction:	R to L (nonsynonymous)
Amino Acid Position:	284

Amino Acid Sequence (Calculated using NCBI transcript definition)
MGEEGTGGTVHLLCLAASSGVPLFCRSSRGGAPARQQLPFSVIGSLNGVHMFGQNLEVQLSSARTENTTVVWKSFHDSIT LIVLSSEVGISELRLERLLQMVFGAMVLLVGLEELTNIRNVERLKKDLRASYCLIDSFLGDSELIGDLTQCVDCVIPPEG SLLQEALSGFAEAAGTTFVSLVVSGRVVAATEGWWRLGTPEAVLLPWLVGSLPPQTARDYPVYLPHGSPTVPHRLLTLTL LPSLELCLLCGPSPPLSQLYPQLLERWWQPLLDPLRACLPLGPLALPSGFPLHTDILGLLLLHLELKRCLFTVEPLGDKA EPSPEQRRRLLRNFYTLVTSTHFPPVPLHVMKE*

Gene Symbol:	FUZ
Accession:	XR_007067015
Location:	EXON;NON-CODING

Gene Symbol:	FUZ
Accession:	NR_033269
Location:	EXON;NON-CODING

Gene Symbol:	FUZ
Accession:	XR_007067016
Location:	INTRON;NON-CODING

Gene Symbol:	FUZ
Accession:	XR_935863
Location:	INTRON;NON-CODING

Variant Samples

ClinVar GRCh37

ClinVar GRCh38

Additional References at PubMed

PMID:29068549

Additional Information

External Database Links

Database	Acc Id	Source(s)
ClinVar	RCV000515994	CLINVAR
dbSNP (RS)	rs368721486	CLINVAR
MedGen	C0265275	CLINVAR
NCBI Gene	FUZ	CLINVAR
OMIM	610622	CLINVAR
SNOMED CT	75049004	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)

Create Name:

Description:

Send us a Message

Variant: RGD:13467271 - Homo sapiens

Imported Disease Annotations - ClinVar