RGD:155923031 Rat Genome Database

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Variant: RGD:155923031 -  Homo sapiens

RGD ID: 155923031
ClinVar ID: CV2347429
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: WFDC8  
Reference Nucleotide: C
Variant Nucleotide: G
Position
Assembly Chr Position
GRCh37 20 44,181,814
GRCh38 20 45,553,175
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.547G>C
NM_181510.3:c.547G>C
NC_000020.11:g.45553175C>G
NC_000020.10:g.44181814C>G
More... 		11/03/2022 missense variant uncertain significance AllHighlyPenetrant

Variant Details
Variant Transcripts
Gene Symbol:WFDC8
Accession:NM_181510
Location:EXON
Amino Acid Prediction: E to Q (nonsynonymous)
Amino Acid Position: 183
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MWTVRTEGGHFPLHSPTFSWRNVAFLLLLSLALEWTSAMLTKKIKHKPGLCPKERLTCTTELPDSCNTDFDCKEYQKCCF
FACQKKCMDPFQEPCMLPVRHGNCNHEAQRWHFDFKNYRCTPFKYRGCEGNANNFLNEDACRTACMLIVKDGQCPLFPFT
ERKECPPSCHSDIDCPQTDKCCQSRCGFVCARAWTVKKGFCPRKPLLCTKIDKPKCLQDEECPLVEKCCSHCGLKCMDPR
R*

Gene Symbol:WFDC8
Accession:NM_130896
Location:EXON
Amino Acid Prediction: E to Q (nonsynonymous)
Amino Acid Position: 183
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MWTVRTEGGHFPLHSPTFSWRNVAFLLLLSLALEWTSAMLTKKIKHKPGLCPKERLTCTTELPDSCNTDFDCKEYQKCCF
FACQKKCMDPFQEPCMLPVRHGNCNHEAQRWHFDFKNYRCTPFKYRGCEGNANNFLNEDACRTACMLIVKDGQCPLFPFT
ERKECPPSCHSDIDCPQTDKCCQSRCGFVCARAWTVKKGFCPRKPLLCTKIDKPKCLQDEECPLVEKCCSHCGLKCMDPR
R*

Gene Symbol:WFDC8
Accession:XM_017028119
Location:EXON
Amino Acid Prediction: E to Q (nonsynonymous)
Amino Acid Position: 183
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MWTVRTEGGHFPLHSPTFSWRNVAFLLLLSLALEWTSAMLTKKIKHKPGLCPKERLTCTTELPDSCNTDFDCKEYQKCCF
FACQKKCMDPFQEPCMLPVRHGNCNHEAQRWHFDFKNYRCTPFKYRGCEGNANNFLNEDACRTACMLIVKDGQCPLFPFT
ERKECPPSCHSDIDCPQTDKCCQSRCGFVCARAWTGKDWGYTSQIYWACAKDVMLSPWSGGCLEPQMLLGLIFEDLWEPL
LMPNKLY*
Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV004207263 CLINVAR
MedGen CN169374 CLINVAR
NCBI Gene WFDC8 CLINVAR