RGD:8606693 Rat Genome Database

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Variant: RGD:8606693 -  Homo sapiens

RGD ID: 8606693
RS ID: rs17304212
ClinVar ID: CV53040
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: PJVK  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 2 179,325,735
GRCh38 2 178,461,008
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NG_012186.1:g.14573C>T
NC_000002.12:g.178461008C>T
NC_000002.11:g.179325735C>T
NP_001036167.1:p.Arg265Cys
More... 		07/30/2021 missense variant benign|conflicting interpretations of pathogenicity|uncertain significance AllHighlyPenetrant; Deafness, autosomal recessive 59; none provided
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:PJVK
Accession:NM_001369912
Location:EXON
Amino Acid Prediction: R to C (nonsynonymous)
Amino Acid Position: 265
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MFAAATKSFVKQVGDGGRLVPVPSLSEADKYQPLSLVVKKKRCFLFPRYKFTSTPFTLKDILLGDREISAGISSYQLLNY
EDESDVSLYGRRGNHIVNDVGINVAGSDSIAVKASFGIVTKHEVEVSTLLKEITTRKINFDHSLIRQSRSSRKAVLCVVM
ESIRTTRQCSLSVHAGIRGEAMRFHFMDEQNPKGRDKAIVFPAHTTIAFSVFELFIYLDGAFDLCVTSVSKGGFEREETA
TFALLYRLRNILFERNRRVMDVISCSQLYLDDLFSDYYDKPLSMTDISLKEGTHIRVNLLNHNIPKGPCILCGMGNFKRE
TVYGCFQCSVDGQKYVRLHAVPCFDIWHKRMK*

Gene Symbol:PJVK
Accession:XM_017004221
Location:EXON
Amino Acid Prediction: R to C (nonsynonymous)
Amino Acid Position: 300
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MYVYRLLSITVLMDILLEGLHSQYFTIYELRITPMAKHFSTQSFVKQVGDGGRLVPVPSLSEADKYQPLSLVVKKKRCFL
FPRYKFTSTPFTLKDILLGDREISAGISSYQLLNYEDESDVSLYGRRGNHIVNDVGINVAGSDSIAVKASFGIVTKHEVE
VSTLLKEITTRKINFDHSLIRQSRSSRKAVLCVVMESIRTTRQCSLSVHAGIRGEAMRFHFMDEQNPKGRDKAIVFPAHT
TIAFSVFELFIYLDGAFDLCVTSVSKGGFEREETATFALLYRLRNILFERNRRVMDVISCSQLYLDDLFSDYYDKPLSMT
DISLKEGTHIRVNLLNHNIPKGPCILCGMGNFKRETVYGCFQCSVDGQKYVRLHAVPCFDIWHKRMK*

Gene Symbol:PJVK
Accession:NM_001042702
Location:EXON
Amino Acid Prediction: R to C (nonsynonymous)
Amino Acid Position: 265
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MFAAATKSFVKQVGDGGRLVPVPSLSEADKYQPLSLVVKKKRCFLFPRYKFTSTPFTLKDILLGDREISAGISSYQLLNY
EDESDVSLYGRRGNHIVNDVGINVAGSDSIAVKASFGIVTKHEVEVSTLLKEITTRKINFDHSLIRQSRSSRKAVLCVVM
ESIRTTRQCSLSVHAGIRGEAMRFHFMDEQNPKGRDKAIVFPAHTTIAFSVFELFIYLDGAFDLCVTSVSKGGFEREETA
TFALLYRLRNILFERNRRVMDVISCSQLYLDDLFSDYYDKPLSMTDISLKEGTHIRVNLLNHNIPKGPCILCGMGNFKRE
TVYGCFQCSVDGQKYVRLHAVPCFDIWHKRMK*

Gene Symbol:PJVK
Accession:NM_001353775
Location:EXON
Amino Acid Prediction: R to C (nonsynonymous)
Amino Acid Position: 268
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MAFAWDAAPLSFVKQVGDGGRLVPVPSLSEADKYQPLSLVVKKKRCFLFPRYKFTSTPFTLKDILLGDREISAGISSYQL
LNYEDESDVSLYGRRGNHIVNDVGINVAGSDSIAVKASFGIVTKHEVEVSTLLKEITTRKINFDHSLIRQSRSSRKAVLC
VVMESIRTTRQCSLSVHAGIRGEAMRFHFMDEQNPKGRDKAIVFPAHTTIAFSVFELFIYLDGAFDLCVTSVSKGGFERE
ETATFALLYRLRNILFERNRRVMDVISCSQLYLDDLFSDYYDKPLSMTDISLKEGTHIRVNLLNHNIPKGPCILCGMGNF
KRETVYGCFQCSVDGQKYVRLHAVPCFDIWHKRMK*

Gene Symbol:PJVK
Accession:NM_001353777
Location:EXON
Amino Acid Prediction: R to C (nonsynonymous)
Amino Acid Position: 106
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MESIRTTRQCSLSVHAGIRGEAMRFHFMDEQNPKGRDKAIVFPAHTTIAFSVFELFIYLDGAFDLCVTSVSKGGFEREET
ATFALLYRLRNILFERNRRVMDVISCSQLYLDDLFSDYYDKPLSMTDISLKEGTHIRVNLLNHNIPKGPCILCGMGNFKR
ETVYGCFQCSVDGQKYVRLHAVPCFDIWHKRMK*

Gene Symbol:PJVK
Accession:NM_001353776
Location:EXON
Amino Acid Prediction: R to C (nonsynonymous)
Amino Acid Position: 267
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MYVYRLLSITVLMDILLEGLHSQYFTIYELRITPMAKHFSTQSFVKQVGDGGRLVPVPSLSEADKYQPLSLVVKKKRCFL
FPRYKFTSTPFTLKDILLGDREISAGISSYQLLNYEDESDVSLYGRRGNHIVNDVGINVAGSDSIAVKASFGIVTKHEVE
VSTLLKEITTRKINFDHSLIRQSRSSRKAVLCVVMESIRTTRQCSLSVHAGIRGEAMRFHFMDEQNPKGRDKAIVFPAHT
TIAFSVFELFIYLDGAFDRRVMDVISCSQLYLDDLFSDYYDKPLSMTDISLKEGTHIRVNLLNHNIPKGPCILCGMGNFK
RETVYGCFQCSVDGQKYVRLHAVPCFDIWHKRMK*

Gene Symbol:PJVK
Accession:NM_001353778
Location:EXON
Amino Acid Prediction: R to C (nonsynonymous)
Amino Acid Position: 106
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MESIRTTRQCSLSVHAGIRGEAMRFHFMDEQNPKGRDKAIVFPAHTTIAFSVFELFIYLDGAFDLCVTSVSKGGFEREET
ATFALLYRLRNILFERNRRVMDVISCSQLYLDDLFSDYYDKPLSMTDISLKEGTHIRVNLLNHNIPKGPCILCGMGNFKR
ETVYGCFQCSVDGQKYVRLHAVPCFDIWHKRMK*

Gene Symbol:PJVK
Accession:XR_922929
Location:INTRON;NON-CODING

Variant Samples
Additional References at PubMed
PMID:17718865   PMID:24033266   PMID:25741868   PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000036838 CLINVAR
  RCV001135346 CLINVAR
  RCV002228122 CLINVAR
dbSNP (RS) rs17304212 CLINVAR
MedGen C1857744 CLINVAR
  C3661900 CLINVAR
  CN169374 CLINVAR
NCBI Gene DFNB59 CLINVAR
OMIM 610219 CLINVAR
  610220 CLINVAR