RGD:156106764 Rat Genome Database

Variant: RGD:156106764 - Homo sapiens

RGD ID:

156106764

ClinVar ID:

CV2214026

Genic Status:

GENIC

Type:

SNV (SO:0001483)

Associated Genes:

FUT6

Reference Nucleotide:

Variant Nucleotide:

Position

Assembly	Chr	Position
GRCh37	19	5,832,476
GRCh38	19	5,832,465

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_000150.4:c.103C>T NM_001040701.2:c.103C>T NM_001369502.1:c.103C>T NM_001369504.1:c.103C>T More...	07/20/2022	missense variant	uncertain significance	AllHighlyPenetrant

Variant Details

Variant Transcripts

Gene Symbol:	FUT6
Accession:	XM_047438553
Location:	EXON
Amino Acid Prediction:	R to C (nonsynonymous)
Amino Acid Position:	35

Amino Acid Sequence (Calculated using NCBI transcript definition)
MDPLGPAKPQWSWRCCLTTLLFQLLMAVCFFSYLCVSQDDPTVYPNGSRFPDSTGTPAHSIPLILLWTWPFNKPIALPRC SEMVPGTADCNITADRKVYPQADAVIVHHREVMYNPSAQLPRSPRRQGQRWIWFSMESPSHCWQLKAMDGYFNLTMSYRS DSDIFTPYGWLEPWSGQPAHPPLNLSAKTELVAWAVSNWGPNSARVRYYQSLQAHLKVDVYGRSHKPLPQGTMMETLSRY KFYLAFENSLHPDYITEKLWRNALEAWAVPVVLGPSRSNYERFLPPDAFIHVDDFQSPKDLARYLQELDKDHARYLSYFR WRETLRPRSFSWALAFCKACWKLQEESRYQTRGIAAWFT*

Gene Symbol:	FUT6
Accession:	XM_047438554
Location:	EXON
Amino Acid Prediction:	R to C (nonsynonymous)
Amino Acid Position:	35

Amino Acid Sequence (Calculated using NCBI transcript definition)
MDPLGPAKPQWSWRCCLTTLLFQLLMAVCFFSYLCVSQDDPTVYPNGSRFPDSTGTPAHSIPLILLWTWPFNKPIALPRC SEMVPGTADCNITADRKVYPQADAVIVHHREVMYNPSAQLPRSPRRQGQRWIWFSMESPSHCWQLKAMDGYFNLTMSYRS DSDIFTPYGWLEPWSGQPAHPPLNLSAKTELVAWAVSNWGPNSARVRYYQSLQAHLKVDVYGRSHKPLPQGTMMETLSRY KFYLAFENSLHPDYITEKLWRNALEAWAVPVVLGPSRSNYERFLPPDAFIHVDDFQSPKDLARYLQELDKDHARYLSYFR WRETLRPRSFSWALAFCKACWKLQEESRYQTRGIAAWFT*

Gene Symbol:	FUT6
Accession:	NM_001381959
Location:	EXON
Amino Acid Prediction:	R to C (nonsynonymous)
Amino Acid Position:	35

Amino Acid Sequence (Calculated using NCBI transcript definition)
MDPLGPAKPQWSWRCCLTTLLFQLLMAVCFFSYLCVSQDDPTVYPNGSRFPDSTGTPAHSIPLILLWTWPFNKPIALPRC SEMVPGTADCNITADRKVYPQADAVIVHHREVMYNPSAQLPRSPRRQGQRWIWFSMESPSHCWQLKAMDGYFNLTMSYRS DSDIFTPYGWLEPWSGQPAHPPLNLSAKTELVAWAVSNWGPNSARVRYYQSLQAHLKVDVYGRSHKPLPQGTMMETLSRY KFYLAFENSLHPDYITEKLWRNALEAWAVPVVLGPSRSNYERFLPPDAFIHVDDFQSPKDLARYLQELDKDHARYLSYFR WRETLRPRSFSWALAFCKACWKLQEESRTRLPEASPA*

Gene Symbol:	FUT6
Accession:	NM_001040701
Location:	EXON
Amino Acid Prediction:	R to C (nonsynonymous)
Amino Acid Position:	35

Amino Acid Sequence (Calculated using NCBI transcript definition)
MDPLGPAKPQWSWRCCLTTLLFQLLMAVCFFSYLCVSQDDPTVYPNGSRFPDSTGTPAHSIPLILLWTWPFNKPIALPRC SEMVPGTADCNITADRKVYPQADAVIVHHREVMYNPSAQLPRSPRRQGQRWIWFSMESPSHCWQLKAMDGYFNLTMSYRS DSDIFTPYGWLEPWSGQPAHPPLNLSAKTELVAWAVSNWGPNSARVRYYQSLQAHLKVDVYGRSHKPLPQGTMMETLSRY KFYLAFENSLHPDYITEKLWRNALEAWAVPVVLGPSRSNYERFLPPDAFIHVDDFQSPKDLARYLQELDKDHARYLSYFR WRETLRPRSFSWALAFCKACWKLQEESRYQTRGIAAWFT*

Gene Symbol:	FUT6
Accession:	XM_047438555
Location:	EXON
Amino Acid Prediction:	R to C (nonsynonymous)
Amino Acid Position:	35

Amino Acid Sequence (Calculated using NCBI transcript definition)
MDPLGPAKPQWSWRCCLTTLLFQLLMAVCFFSYLCVSQDDPTVYPNGSRFPDSTGTPAHSIPLILLWTWPFNKPIALPRC SEMVPGTADCNITADRKVYPQADAVIVHHREVMYNPSAQLPRSPRRQGQRWIWFSMESPSHCWQLKAMDGYFNLTMSYRS DSDIFTPYGWLEPWSGQPAHPPLNLSAKTELVAWAVSNWGPNSARVRYYQSLQAHLKVDVYGRSHKPLPQGTMMETLSRY KFYLAFENSLHPDYITEKLWRNALEAWAVPVVLGPSRSNYERFLPPDAFIHVDDFQSPKDLARYLQELDKDHARYLSYFR WRETLRPRSFSWALAFCKACWKLQEESRYQTRGIAAWFT*

Gene Symbol:	FUT6
Accession:	NM_001369504
Location:	EXON
Amino Acid Prediction:	R to C (nonsynonymous)
Amino Acid Position:	35

Amino Acid Sequence (Calculated using NCBI transcript definition)
MDPLGPAKPQWSWRCCLTTLLFQLLMAVCFFSYLCVSQDDPTVYPNGSRFPDSTGTPAHSIPLILLWTWPFNKPIALPRC SEMVPGTADCNITADRKVYPQADAVIVHHREVMYNPSAQLPRSPRRQGQRWIWFSMESPSHCWQLKAMDGYFNLTMSYRS DSDIFTPYGWLEPWSGQPAHPPLNLSAKTELVAWAVSNWGPNSARVRYYQSLQAHLKVDVYGRSHKPLPQGTMMETLSRY KFYLAFENSLHPDYITEKLWRNALEAWAVPVVLGPSRSNYERFLPPDAFIHVDDFQSPKDLARYLQELDKDHARYLSYFR WRETLRPRSFSWALAFCKACWKLQEESRYQTRGIAAWFT*

Gene Symbol:	FUT6
Accession:	XM_047438560
Location:	EXON
Amino Acid Prediction:	R to C (nonsynonymous)
Amino Acid Position:	35

Amino Acid Sequence (Calculated using NCBI transcript definition)
MDPLGPAKPQWSWRCCLTTLLFQLLMAVCFFSYLCVSQDDPTVYPNGSRFPDSTGTPAHSIPLILLWTWPFNKPIALPRC SEMVPGTADCNITADRKVYPQADAVIVHHREVMYNPSAQLPRSPRRQGQRWIWFSMESPSHCWQLKAMDGYFNLTMSYRS DSDIFTPYGWLEPWSGQPAHPPLNLSAKTELVAWAVSNWGPNSARVRYYQSLQAHLKVDVYGRSHKPLPQGTMMETLSRY KFYLAFENSLHPDYITEKLWRNALEAWAVPVVLGPSRSNYERFLPPDAFIHVDDFQSPKDLARYLQELDKDHARYLSYFR WRETLRPRSFSWALAFCKACWKLQEESRTRLPEASPA*

Gene Symbol:	FUT6
Accession:	XM_047438561
Location:	EXON
Amino Acid Prediction:	R to C (nonsynonymous)
Amino Acid Position:	35

Amino Acid Sequence (Calculated using NCBI transcript definition)
MDPLGPAKPQWSWRCCLTTLLFQLLMAVCFFSYLCVSQDDPTVYPNGSRFPDSTGTPAHSIPLILLWTWPFNKPIALPRC SEMVPGTADCNITADRKVYPQADAVIVHHREVMYNPSAQLPRSPRRQGQRWIWFSMESPSHCWQLKAMDGYFNLTMSYRS DSDIFTPYGWLEPWSGQPAHPPLNLSAKTELVAWAVSNWGPNSARVRYYQSLQAHLKVDVYGRSHKPLPQGTMMETLSRY KFYLAFENSLHPDYITEKLWRNALEAWAVPVVLGPSRSNYERFLPPDAFIHVDDFQSPKDLARYLQELDKDHARYLSYFR WRETLRPRSFSWALAFCKACWKLQEESRTRLPEASPA*

Gene Symbol:	FUT6
Accession:	XM_047438556
Location:	EXON
Amino Acid Prediction:	R to C (nonsynonymous)
Amino Acid Position:	35

Amino Acid Sequence (Calculated using NCBI transcript definition)
MDPLGPAKPQWSWRCCLTTLLFQLLMAVCFFSYLCVSQDDPTVYPNGSRFPDSTGTPAHSIPLILLWTWPFNKPIALPRC SEMVPGTADCNITADRKVYPQADAVIVHHREVMYNPSAQLPRSPRRQGQRWIWFSMESPSHCWQLKAMDGYFNLTMSYRS DSDIFTPYGWLEPWSGQPAHPPLNLSAKTELVAWAVSNWGPNSARVRYYQSLQAHLKVDVYGRSHKPLPQGTMMETLSRY KFYLAFENSLHPDYITEKLWRNALEAWAVPVVLGPSRSNYERFLPPDAFIHVDDFQSPKDLARYLQELDKDHARYLSYFR WRETLRPRSFSWALAFCKACWKLQEESRYQTRGIAAWFT*

Gene Symbol:	FUT6
Accession:	XM_047438558
Location:	EXON
Amino Acid Prediction:	R to C (nonsynonymous)
Amino Acid Position:	35

Amino Acid Sequence (Calculated using NCBI transcript definition)
MDPLGPAKPQWSWRCCLTTLLFQLLMAVCFFSYLCVSQDDPTVYPNGSRFPDSTGTPAHSIPLILLWTWPFNKPIALPRC SEMVPGTADCNITADRKVYPQADAVIVHHREVMYNPSAQLPRSPRRQGQRWIWFSMESPSHCWQLKAMDGYFNLTMSYRS DSDIFTPYGWLEPWSGQPAHPPLNLSAKTELVAWAVSNWGPNSARVRYYQSLQAHLKVDVYGRSHKPLPQGTMMETLSRY KFYLAFENSLHPDYITEKLWRNALEAWAVPVVLGPSRSNYERFLPPDAFIHVDDFQSPKDLARYLQELDKDHARYLSYFR WRETLRPRSFSWALAFCKACWKLQEESRYQTRGIAAWFT*

Gene Symbol:	FUT6
Accession:	NM_000150
Location:	EXON
Amino Acid Prediction:	R to C (nonsynonymous)
Amino Acid Position:	35

Amino Acid Sequence (Calculated using NCBI transcript definition)
MDPLGPAKPQWSWRCCLTTLLFQLLMAVCFFSYLCVSQDDPTVYPNGSRFPDSTGTPAHSIPLILLWTWPFNKPIALPRC SEMVPGTADCNITADRKVYPQADAVIVHHREVMYNPSAQLPRSPRRQGQRWIWFSMESPSHCWQLKAMDGYFNLTMSYRS DSDIFTPYGWLEPWSGQPAHPPLNLSAKTELVAWAVSNWGPNSARVRYYQSLQAHLKVDVYGRSHKPLPQGTMMETLSRY KFYLAFENSLHPDYITEKLWRNALEAWAVPVVLGPSRSNYERFLPPDAFIHVDDFQSPKDLARYLQELDKDHARYLSYFR WRETLRPRSFSWALAFCKACWKLQEESRYQTRGIAAWFT*

Gene Symbol:	FUT6
Accession:	NM_001369505
Location:	EXON
Amino Acid Prediction:	R to C (nonsynonymous)
Amino Acid Position:	35

Amino Acid Sequence (Calculated using NCBI transcript definition)
MDPLGPAKPQWSWRCCLTTLLFQLLMAVCFFSYLCVSQDDPTVYPNGSRFPDSTGTPAHSIPLILLWTWPFNKPIALPRC SEMVPGTADCNITADRKVYPQADAVIVHHREVMYNPSAQLPRSPRRQGQRWIWFSMESPSHCWQLKAMDGYFNLTMSYRS DSDIFTPYGWLEPWSGQPAHPPLNLSAKTELVAWAVSNWGPNSARVRYYQSLQAHLKVDVYGRSHKPLPQGTMMETLSRY KFYLAFENSLHPDYITEKLWRNALEAWAVPVVLGPSRSNYERFLPPDAFIHVDDFQSPKDLARYLQELDKDHARYLSYFR WRETLRPRSFSWALAFCKACWKLQEESRYQTRGIAAWFT*

Gene Symbol:	FUT6
Accession:	NM_001381957
Location:	EXON
Amino Acid Prediction:	R to C (nonsynonymous)
Amino Acid Position:	35

Amino Acid Sequence (Calculated using NCBI transcript definition)
MDPLGPAKPQWSWRCCLTTLLFQLLMAVCFFSYLCVSQDDPTVYPNGSRFPDSTGTPAHSIPLILLWTWPFNKPIALPRC SEMVPGTADCNITADRKVYPQADAVIVHHREVMYNPSAQLPRSPRRQGQRWIWFSMESPSHCWQLKAMDGYFNLTMSYRS DSDIFTPYGWLEPWSGQPAHPPLNLSAKTELVAWAVSNWGPNSARVRYYQSLQAHLKVDVYGRSHKPLPQGTMMETLSRY KFYLAFENSLHPDYITEKLWRNALEAWAVPVVLGPSRSNYERFLPPDAFIHVDDFQSPKDLARYLQELDKDHARYLSYFR WRETLRPRSFSWALAFCKACWKLQEESRTRLPEASPA*

Gene Symbol:	FUT6
Accession:	XM_047438559
Location:	EXON
Amino Acid Prediction:	R to C (nonsynonymous)
Amino Acid Position:	35

Amino Acid Sequence (Calculated using NCBI transcript definition)
MDPLGPAKPQWSWRCCLTTLLFQLLMAVCFFSYLCVSQDDPTVYPNGSRFPDSTGTPAHSIPLILLWTWPFNKPIALPRC SEMVPGTADCNITADRKVYPQADAVIVHHREVMYNPSAQLPRSPRRQGQRWIWFSMESPSHCWQLKAMDGYFNLTMSYRS DSDIFTPYGWLEPWSGQPAHPPLNLSAKTELVAWAVSNWGPNSARVRYYQSLQAHLKVDVYGRSHKPLPQGTMMETLSRY KFYLAFENSLHPDYITEKLWRNALEAWAVPVVLGPSRSNYERFLPPDAFIHVDDFQSPKDLARYLQELDKDHARYLSYFR WRETLRPRSFSWALAFCKACWKLQEESRYQTRGIAAWFT*

Gene Symbol:	FUT6
Accession:	NM_001381955
Location:	EXON
Amino Acid Prediction:	R to C (nonsynonymous)
Amino Acid Position:	35

Amino Acid Sequence (Calculated using NCBI transcript definition)
MDPLGPAKPQWSWRCCLTTLLFQLLMAVCFFSYLCVSQDDPTVYPNGSRFPDSTGTPAHSIPLILLWTWPFNKPIALPRC SEMVPGTADCNITADRKVYPQADAVIVHHREVMYNPSAQLPRSPRRQGQRWIWFSMESPSHCWQLKAMDGYFNLTMSYRS DSDIFTPYGWLEPWSGQPAHPPLNLSAKTELVAWAVSNWGPNSARVRYYQSLQAHLKVDVYGRSHKPLPQGTMMETLSRY KFYLAFENSLHPDYITEKLWRNALEAWAVPVVLGPSRSNYERFLPPDAFIHVDDFQSPKDLARYLQELDKDHARYLSYFR WRETLRPRSFSWALAFCKACWKLQEESRYQTRGIAAWFT*

Gene Symbol:	FUT6
Accession:	NM_001381956
Location:	EXON
Amino Acid Prediction:	R to C (nonsynonymous)
Amino Acid Position:	35

Amino Acid Sequence (Calculated using NCBI transcript definition)
MDPLGPAKPQWSWRCCLTTLLFQLLMAVCFFSYLCVSQDDPTVYPNGSRFPDSTGTPAHSIPLILLWTWPFNKPIALPRC SEMVPGTADCNITADRKVYPQADAVIVHHREVMYNPSAQLPRSPRRQGQRWIWFSMESPSHCWQLKAMDGYFNLTMSYRS DSDIFTPYGWLEPWSGQPAHPPLNLSAKTELVAWAVSNWGPNSARVRYYQSLQAHLKVDVYGRSHKPLPQGTMMETLSRY KFYLAFENSLHPDYITEKLWRNALEAWAVPVVLGPSRSNYERFLPPDAFIHVDDFQSPKDLARYLQELDKDHARYLSYFR WRETLRPRSFSWALAFCKACWKLQEESRYQTRGIAAWFT*

Gene Symbol:	FUT6
Accession:	XM_047438557
Location:	EXON
Amino Acid Prediction:	R to C (nonsynonymous)
Amino Acid Position:	35

Amino Acid Sequence (Calculated using NCBI transcript definition)
MDPLGPAKPQWSWRCCLTTLLFQLLMAVCFFSYLCVSQDDPTVYPNGSRFPDSTGTPAHSIPLILLWTWPFNKPIALPRC SEMVPGTADCNITADRKVYPQADAVIVHHREVMYNPSAQLPRSPRRQGQRWIWFSMESPSHCWQLKAMDGYFNLTMSYRS DSDIFTPYGWLEPWSGQPAHPPLNLSAKTELVAWAVSNWGPNSARVRYYQSLQAHLKVDVYGRSHKPLPQGTMMETLSRY KFYLAFENSLHPDYITEKLWRNALEAWAVPVVLGPSRSNYERFLPPDAFIHVDDFQSPKDLARYLQELDKDHARYLSYFR WRETLRPRSFSWALAFCKACWKLQEESRYQTRGIAAWFT*

Gene Symbol:	FUT6
Accession:	NM_001369502
Location:	EXON
Amino Acid Prediction:	R to C (nonsynonymous)
Amino Acid Position:	35

Amino Acid Sequence (Calculated using NCBI transcript definition)
MDPLGPAKPQWSWRCCLTTLLFQLLMAVCFFSYLCVSQDDPTVYPNGSRFPDSTGTPAHSIPLILLWTWPFNKPIALPRC SEMVPGTADCNITADRKVYPQADAVIVHHREVMYNPSAQLPRSPRRQGQRWIWFSMESPSHCWQLKAMDGYFNLTMSYRS DSDIFTPYGWLEPWSGQPAHPPLNLSAKTELVAWAVSNWGPNSARVRYYQSLQAHLKVDVYGRSHKPLPQGTMMETLSRY KFYLAFENSLHPDYITEKLWRNALEAWAVPVVLGPSRSNYERFLPPDAFIHVDDFQSPKDLARYLQELDKDHARYLSYFR WRETLRPRSFSWALAFCKACWKLQEESRYQTRGIAAWFT*

Gene Symbol:	FUT6
Accession:	NM_001381958
Location:	EXON
Amino Acid Prediction:	R to C (nonsynonymous)
Amino Acid Position:	35

Amino Acid Sequence (Calculated using NCBI transcript definition)
MDPLGPAKPQWSWRCCLTTLLFQLLMAVCFFSYLCVSQDDPTVYPNGSRFPDSTGTPAHSIPLILLWTWPFNKPIALPRC SEMVPGTADCNITADRKVYPQADAVIVHHREVMYNPSAQLPRSPRRQGQRWIWFSMESPSHCWQLKAMDGYFNLTMSYRS DSDIFTPYGWLEPWSGQPAHPPLNLSAKTELVAWAVSNWGPNSARVRYYQSLQAHLKVDVYGRSHKPLPQGTMMETLSRY KFYLAFENSLHPDYITEKLWRNALEAWAVPVVLGPSRSNYERFLPPDAFIHVDDFQSPKDLARYLQELDKDHARYLSYFR WRETLRPRSFSWALAFCKACWKLQEESRTRLPEASPA*

Variant Samples

ClinVar GRCh37

ClinVar GRCh38

Additional Information

External Database Links

Database	Acc Id	Source(s)
ClinVar	RCV004084073	CLINVAR
MedGen	CN169374	CLINVAR
NCBI Gene	FUT6	CLINVAR
OMIM	136836	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:156106764 - Homo sapiens