RGD:155969650 Rat Genome Database

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Variant: RGD:155969650 -  Homo sapiens

RGD ID: 155969650
ClinVar ID: CV2309095
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: WFDC8  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 20 44,184,463
GRCh38 20 45,555,824
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_130896.3:c.322G>A
NM_181510.3:c.322G>A
NC_000020.11:g.45555824C>T
NC_000020.10:g.44184463C>T
More... 		11/10/2022 missense variant uncertain significance AllHighlyPenetrant

Variant Details
Variant Transcripts
Gene Symbol:WFDC8
Accession:NM_181510
Location:EXON
Amino Acid Prediction: A to T (nonsynonymous)
Amino Acid Position: 108
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MWTVRTEGGHFPLHSPTFSWRNVAFLLLLSLALEWTSAMLTKKIKHKPGLCPKERLTCTTELPDSCNTDFDCKEYQKCCF
FACQKKCMDPFQEPCMLPVRHGNCNHETQRWHFDFKNYRCTPFKYRGCEGNANNFLNEDACRTACMLIVKDGQCPLFPFT
ERKECPPSCHSDIDCPQTDKCCESRCGFVCARAWTVKKGFCPRKPLLCTKIDKPKCLQDEECPLVEKCCSHCGLKCMDPR
R*

Gene Symbol:WFDC8
Accession:NM_130896
Location:EXON
Amino Acid Prediction: A to T (nonsynonymous)
Amino Acid Position: 108
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MWTVRTEGGHFPLHSPTFSWRNVAFLLLLSLALEWTSAMLTKKIKHKPGLCPKERLTCTTELPDSCNTDFDCKEYQKCCF
FACQKKCMDPFQEPCMLPVRHGNCNHETQRWHFDFKNYRCTPFKYRGCEGNANNFLNEDACRTACMLIVKDGQCPLFPFT
ERKECPPSCHSDIDCPQTDKCCESRCGFVCARAWTVKKGFCPRKPLLCTKIDKPKCLQDEECPLVEKCCSHCGLKCMDPR
R*

Gene Symbol:WFDC8
Accession:XM_017028119
Location:EXON
Amino Acid Prediction: A to T (nonsynonymous)
Amino Acid Position: 108
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MWTVRTEGGHFPLHSPTFSWRNVAFLLLLSLALEWTSAMLTKKIKHKPGLCPKERLTCTTELPDSCNTDFDCKEYQKCCF
FACQKKCMDPFQEPCMLPVRHGNCNHETQRWHFDFKNYRCTPFKYRGCEGNANNFLNEDACRTACMLIVKDGQCPLFPFT
ERKECPPSCHSDIDCPQTDKCCESRCGFVCARAWTGKDWGYTSQIYWACAKDVMLSPWSGGCLEPQMLLGLIFEDLWEPL
LMPNKLY*
Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV004171455 CLINVAR
MedGen CN169374 CLINVAR
NCBI Gene WFDC8 CLINVAR