RGD:405811876 Rat Genome Database

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Variant: RGD:405811876 -  Homo sapiens

RGD ID: 405811876
ClinVar ID: CV3352816
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: GNG12-AS1  WLS  
Reference Nucleotide: C
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 1 68,624,907
GRCh38 1 68,159,224
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_001193334.1:c.130G>T
NM_001002292.4:c.397G>T
NM_024911.7:c.403G>T
NC_000001.11:g.68159224C>A
More... 		12/20/2023 missense variant uncertain significance AllHighlyPenetrant

Variant Details
Variant Transcripts
Gene Symbol:WLS
Accession:NM_024911
Location:EXON
Amino Acid Prediction: D to N (nonsynonymous)
Amino Acid Position: 135
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MAGAIIENMSTKKLCIVGGILLVFQIIAFLVGGLIAPGPTTAVSYMSVKCVDARKNHHKTKWFVPWGPNHCDKIRDIEEA
IPREIEANDIVFSVHIPLPHMEMSPWFQFMLFILQLDIAFKLNNQIRENAEVSMNVSLAYRDDAFAEWTEMAHERVPRKL
KCTFTSPKTPEHEGRYYECDVLPFMEIGSVAHKFYLLNIRLPVNEKKKINVGIGEIKDIRLVGIHQNGGFTKVWFAMKTF
LTPSIFIIMVWYWRRITMMSRPPVLLEKVIFALGISMTFINIPVEWFSIGFDWTWMLLFGDIRQGIFYAMLLSFWIIFCG
EHMMDQHERNHIAGYWKQVGPIAVGSFCLFIFDMCERGVQLTNPFYSIWTTDIGTELAMAFIIVAGICLCLYFLFLCFMV
FQVFRNISGKQSSLPAMSKVRRLHYEGLIFRFKFLMLITLACAAMTVIFFIVSQVTEGHWKWGGVTVQVNSAFFTGIYGM
WNLYVFALMFLYAPSHKNYGEDQSNGDLGVHSGEELQLTTTITHVDGPTEIYKLTRKEAQE*

Gene Symbol:WLS
Accession:NM_001002292
Location:EXON
Amino Acid Prediction: D to N (nonsynonymous)
Amino Acid Position: 133
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MAGAIIENMSTKKLCIVGGILLVFQIIAFLVGGLIGPTTAVSYMSVKCVDARKNHHKTKWFVPWGPNHCDKIRDIEEAIP
REIEANDIVFSVHIPLPHMEMSPWFQFMLFILQLDIAFKLNNQIRENAEVSMNVSLAYRDDAFAEWTEMAHERVPRKLKC
TFTSPKTPEHEGRYYECDVLPFMEIGSVAHKFYLLNIRLPVNEKKKINVGIGEIKDIRLVGIHQNGGFTKVWFAMKTFLT
PSIFIIMVWYWRRITMMSRPPVLLEKVIFALGISMTFINIPVEWFSIGFDWTWMLLFGDIRQGIFYAMLLSFWIIFCGEH
MMDQHERNHIAGYWKQVGPIAVGSFCLFIFDMCERGVQLTNPFYSIWTTDIGTELAMAFIIVAGICLCLYFLFLCFMVFQ
VFRNISGKQSSLPAMSKVRRLHYEGLIFRFKFLMLITLACAAMTVIFFIVSQVTEGHWKWGGVTVQVNSAFFTGIYGMWN
LYVFALMFLYAPSHKNYGEDQSNGMQLPCKSREDCALFVSELYQELFSASKYSFINDNAASGI*

Gene Symbol:WLS
Accession:NM_001193334
Location:EXON
Amino Acid Prediction: D to N (nonsynonymous)
Amino Acid Position: 44
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MAGAIIENMSTKKLCIVGGILLVFQIIAFLVGGLIGENAEVSMNVSLAYRDDAFAEWTEMAHERVPRKLKCTFTSPKTPE
HEGRYYECDVLPFMEIGSVAHKFYLLNIRLPVNEKKKINVGIGEIKDIRLVGIHQNGGFTKVWFAMKTFLTPSIFIIMVW
YWRRITMMSRPPVLLEKVIFALGISMTFINIPVEWFSIGFDWTWMLLFGDIRQGIFYAMLLSFWIIFCGEHMMDQHERNH
IAGYWKQVGPIAVGSFCLFIFDMCERGVQLTNPFYSIWTTDIGTELAMAFIIVAGICLCLYFLFLCFMVFQVFRNISGKQ
SSLPAMSKVRRLHYEGLIFRFKFLMLITLACAAMTVIFFIVSQVTEGHWKWGGVTVQVNSAFFTGIYGMWNLYVFALMFL
YAPSHKNYGEDQSNGDLGVHSGEELQLTTTITHVDGPTEIYKLTRKEAQE*

Gene Symbol:WLS
Accession:XM_011542191
Location:EXON
Amino Acid Prediction: D to N (nonsynonymous)
Amino Acid Position: 135
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MAGAIIENMSTKKLCIVGGILLVFQIIAFLVGGLIAPGPTTAVSYMSVKCVDARKNHHKTKWFVPWGPNHCDKIRDIEEA
IPREIEANDIVFSVHIPLPHMEMSPWFQFMLFILQLDIAFKLNNQIRENAEVSMNVSLAYRDDAFAEWTEMAHERVPRKL
KCTFTSPKTPEHEGRYYECDVLPFMEIGSVAHKFYLLNIRLPVNEKKKINVGIGEIKDIRLVGIHQNGGFTKVWFAMKTF
LTPSIFIIMVWYWRRITMMSRPPVLLEKVIFALGISMTFINIPVEWFSIGFDWTWMLLFGDIRQGIFYAMLLSFWIIFCG
EHMMDQHERNHIAGYWKQVGPIAVGSFCLFIFDMCERGVQLTNPFYSIWTTDIGTELAMAFIIVAGICLCLYFLFLCFMV
FQVFRNISGKQSSLPAMSKVRRLHYEGLIFRFKFLMLITLACAAMTVIFFIVSQVTEGHWKWGGVTVQVNSAFFTGIYGM
WNLYVFALMFLYAPSHKNYGEDQSNGMQLPCKSREDCALFVSELYQELFSASKYSFINDNAASGI*

Gene Symbol:GNG12-AS1
Accession:NR_040077
Location:INTRON;NON-CODING

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV004483014 CLINVAR
MedGen CN169374 CLINVAR
NCBI Gene GNG12-AS1 CLINVAR
  WLS CLINVAR
OMIM 611514 CLINVAR
  615406 CLINVAR