RGD:156244967 Rat Genome Database

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Variant: RGD:156244967 -  Homo sapiens

RGD ID: 156244967
ClinVar ID: CV2207381
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: WFDC8  
Reference Nucleotide: T
Variant Nucleotide: C
Position
Assembly Chr Position
GRCh37 20 44,181,846
GRCh38 20 45,553,207
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.515A>G
NM_181510.3:c.515A>G
NC_000020.11:g.45553207T>C
NC_000020.10:g.44181846T>C
More... 		10/05/2022 missense variant uncertain significance AllHighlyPenetrant

Variant Details
Variant Transcripts
Gene Symbol:WFDC8
Accession:NM_181510
Location:EXON
Amino Acid Prediction: D to G (nonsynonymous)
Amino Acid Position: 172
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MWTVRTEGGHFPLHSPTFSWRNVAFLLLLSLALEWTSAMLTKKIKHKPGLCPKERLTCTTELPDSCNTDFDCKEYQKCCF
FACQKKCMDPFQEPCMLPVRHGNCNHEAQRWHFDFKNYRCTPFKYRGCEGNANNFLNEDACRTACMLIVKDGQCPLFPFT
ERKECPPSCHSGIDCPQTDKCCESRCGFVCARAWTVKKGFCPRKPLLCTKIDKPKCLQDEECPLVEKCCSHCGLKCMDPR
R*

Gene Symbol:WFDC8
Accession:NM_130896
Location:EXON
Amino Acid Prediction: D to G (nonsynonymous)
Amino Acid Position: 172
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MWTVRTEGGHFPLHSPTFSWRNVAFLLLLSLALEWTSAMLTKKIKHKPGLCPKERLTCTTELPDSCNTDFDCKEYQKCCF
FACQKKCMDPFQEPCMLPVRHGNCNHEAQRWHFDFKNYRCTPFKYRGCEGNANNFLNEDACRTACMLIVKDGQCPLFPFT
ERKECPPSCHSGIDCPQTDKCCESRCGFVCARAWTVKKGFCPRKPLLCTKIDKPKCLQDEECPLVEKCCSHCGLKCMDPR
R*

Gene Symbol:WFDC8
Accession:XM_017028119
Location:EXON
Amino Acid Prediction: D to G (nonsynonymous)
Amino Acid Position: 172
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MWTVRTEGGHFPLHSPTFSWRNVAFLLLLSLALEWTSAMLTKKIKHKPGLCPKERLTCTTELPDSCNTDFDCKEYQKCCF
FACQKKCMDPFQEPCMLPVRHGNCNHEAQRWHFDFKNYRCTPFKYRGCEGNANNFLNEDACRTACMLIVKDGQCPLFPFT
ERKECPPSCHSGIDCPQTDKCCESRCGFVCARAWTGKDWGYTSQIYWACAKDVMLSPWSGGCLEPQMLLGLIFEDLWEPL
LMPNKLY*
Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV004088085 CLINVAR
MedGen CN169374 CLINVAR
NCBI Gene WFDC8 CLINVAR