RGD:401779328 Rat Genome Database

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Variant: RGD:401779328 -  Homo sapiens

RGD ID: 401779328
ClinVar ID: CV2718498
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: WFDC1  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 16 84,328,687
GRCh38 16 84,295,081
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_001282466.2:c.110G>A
NM_001282467.2:c.110G>A
NM_021197.4:c.110G>A
NC_000016.10:g.84295081G>A
More... 		05/24/2023 missense variant uncertain significance AllHighlyPenetrant

Variant Details
Variant Transcripts
Gene Symbol:WFDC1
Accession:NM_021197
Location:EXON
Amino Acid Prediction: R to Q (nonsynonymous)
Amino Acid Position: 37
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MPLTGVGPGSCRRQIIRALCLLLLLLHAGSAKNIWKQALPARLAEKSRAEEAGAPGGPRQPRADRCPPPPRTLPPGACQA
ARCQADSECPRHRRCCYNGCAYACLEAVPPPPVLDWLVQPKPRWLGGNGWLLDGPEEVLQAEACSTTEDGAEPLLCPSGY
ECHILSPGDVAEGIPNRGQCVKQRRQADGRILRHKLYKEYPEGDSKNVAEPGRGQQKHFQ*

Gene Symbol:WFDC1
Accession:NM_001282467
Location:EXON
Amino Acid Prediction: R to Q (nonsynonymous)
Amino Acid Position: 37
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MPLTGVGPGSCRRQIIRALCLLLLLLHAGSAKNIWKQALPARLAEKSRAEEAGAPGGPRQPRADRCPPPPRTLPPGACQA
ARCQADSECPRHRRCCYNGCAYACLEAVPPPPVLDWLVQPKPRWLGGNGWLLDGPEEVLQEACSTTEDGAEPLLCPSGYE
CHILSPGDVAEGIPNRGQCVKQRRQADGRILRHKLYKEYPEGDSKNVAEPGRGQQKHFQ*

Gene Symbol:WFDC1
Accession:NM_001282466
Location:EXON
Amino Acid Prediction: R to Q (nonsynonymous)
Amino Acid Position: 37
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MPLTGVGPGSCRRQIIRALCLLLLLLHAGSAKNIWKQALPARLAEKSRAEEAGAPGGPRQPRADRCPPPPRTLPPGACQA
ARCQADSECPRHRRCCYNGCAYACLEAVPPPPVLDWLVQPKPRWLGGNGWLLDGPEEVLQAEACSTTEDGAEPLLCPSGY
ECHILSPGDVAEGIPNRGQCVKQRRQADGRILRHKLYKEYPEGDSKNVAEPGRGQQKHFQ*

Gene Symbol:WFDC1
Accession:XM_047434411
Location:EXON
Amino Acid Prediction: R to Q (nonsynonymous)
Amino Acid Position: 37
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MPLTGVGPGSCRRQIIRALCLLLLLLHAGSAKNIWKQALPARLAEKSRAEEAGAPGGPRQPRADRCPPPPRTLPPGACQA
ARCQADSECPRHRRCCYNGCAYACLEAVPPPPAEACSTTEDGAEPLLCPSGYECHILSPGDVAEGIPNRGQCVKQRRQAD
GRILRHKLYKEYPEGDSKNVAEPGRGQQKHFQ*
Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV004318305 CLINVAR
MedGen CN169374 CLINVAR
NCBI Gene WFDC1 CLINVAR
OMIM 605322 CLINVAR