RGD:8571257 Rat Genome Database

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Variant: RGD:8571257 -  Homo sapiens

RGD ID: 8571257
RS ID: rs587776956
ClinVar ID: CV51199
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: LOC124901089  PCDHA1  PCDHA2  PCDHA3  PCDHA@  
Reference Nucleotide: T
Variant Nucleotide: C
Position
Assembly Chr Position
GRCh37 5 140,182,532
GRCh38 5 140,802,947
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NC_000005.10:g.140802947T>C
NC_000005.9:g.140182532T>C
NG_000016.2:g.68820T>C
NG_050675.1:g.6750T>C
More... 		04/24/2013 intron variant|missense variant uncertain significance

Variant Details
Variant Transcripts
Gene Symbol:PCDHA3
Accession:NM_031497
Location:EXON
Amino Acid Prediction: S to P (nonsynonymous)
Amino Acid Position: 584
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MLFSWREDPGAQCLLLSLLLLAASEVGSGQLHYSVSEEAKHGTFVGRIAQDLGLELAELVPRLFRVASKRHGDLLEVNLQ
NGILFVNSRIDREELCGRSAECSIHLEVIVDRPLQVFHVEVEVKDINDNAPVFPMAVKNLFISESRQPGSRFSLEGASDA
DIGTNSLLTYSLDSTEYFTLDVKRNDEEIKSLGLVLKKNLNREDTPKHYLLITAIDGGKPELTGTTQLKITVLDVNDNAP
AFERTIYKVRLLENAPNGTLVVTVNATDLDEGVNKDIAYSFNTDMSADILSKFHLDPVNGQISVKGNIDFEESKSYEIQV
EATDKGNPPMSDHCTVLLEIVDINDNVPELVIQSLSLPVLEDSPLSTVIALISVSDRDSGVNGQVTCSLTPHVPFKLVST
FKNYYSLVLDSPLDRESVSAYELVVTARDGGSPSLWATASVSVEVADVNDNAPAFSQSEYTVFVKENNPPGCHIFTVSAR
DADAQENALVSYSLVERRVGERALSSYVSVHAESGKVYALQPLDHEELELLQFQVSARDAGVPPLGSNVTLQVFVLDEND
NAPALLMPRVGGIGGAVSELVPRPVGAGHVVAKVRAVDADSGYNAWLSYELQPGTGGARIPFRVGLYTGEISTTRALDEV
DAPRHRLLVLVKDHGEPSLTATATVLVSLVESGQAPKASSQASAGATGPEAALVDVNVYLIVAICAVSSLLVLTLLLYTA
LRCSAPPTEGDCGPGKPTLVCSSAVGSWSYSQQRQQRVCSGEGLPKTDLMAFSPSLPPCPISRDREEKQDVDVDLSAKVS
NFYLFFPKCLCFSFLNVSTPLEIH*

Gene Symbol:PCDHA3
Accession:NM_018906
Location:EXON
Amino Acid Prediction: S to P (nonsynonymous)
Amino Acid Position: 584
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MLFSWREDPGAQCLLLSLLLLAASEVGSGQLHYSVSEEAKHGTFVGRIAQDLGLELAELVPRLFRVASKRHGDLLEVNLQ
NGILFVNSRIDREELCGRSAECSIHLEVIVDRPLQVFHVEVEVKDINDNAPVFPMAVKNLFISESRQPGSRFSLEGASDA
DIGTNSLLTYSLDSTEYFTLDVKRNDEEIKSLGLVLKKNLNREDTPKHYLLITAIDGGKPELTGTTQLKITVLDVNDNAP
AFERTIYKVRLLENAPNGTLVVTVNATDLDEGVNKDIAYSFNTDMSADILSKFHLDPVNGQISVKGNIDFEESKSYEIQV
EATDKGNPPMSDHCTVLLEIVDINDNVPELVIQSLSLPVLEDSPLSTVIALISVSDRDSGVNGQVTCSLTPHVPFKLVST
FKNYYSLVLDSPLDRESVSAYELVVTARDGGSPSLWATASVSVEVADVNDNAPAFSQSEYTVFVKENNPPGCHIFTVSAR
DADAQENALVSYSLVERRVGERALSSYVSVHAESGKVYALQPLDHEELELLQFQVSARDAGVPPLGSNVTLQVFVLDEND
NAPALLMPRVGGIGGAVSELVPRPVGAGHVVAKVRAVDADSGYNAWLSYELQPGTGGARIPFRVGLYTGEISTTRALDEV
DAPRHRLLVLVKDHGEPSLTATATVLVSLVESGQAPKASSQASAGATGPEAALVDVNVYLIVAICAVSSLLVLTLLLYTA
LRCSAPPTEGDCGPGKPTLVCSSAVGSWSYSQQRQQRVCSGEGLPKTDLMAFSPSLPPCPISRDREEKQDVDVDLSAKPR
QPNPDWRYSASLRAGMHSSVHLEEAGILRAGPGGPDQQWPTVSSATPEPEAGEVSPPVGAGVNSNSWTFKYGPGNPKQSG
PGELPDKFIIPGSPAIISIRQEPTNSQIDKSDFITFGKKEETKKKKKKKKGNKTQEKKEKGNSTTDNSDQ*

Gene Symbol:LOC124901089
Accession:XR_007058969
Location:EXON;NON-CODING

Gene Symbol:PCDHA1
Accession:NM_031410
Location:INTRON

Gene Symbol:PCDHA1
Accession:NM_018900
Location:INTRON

Gene Symbol:PCDHA2
Accession:NM_018905
Location:INTRON

Gene Symbol:PCDHA2
Accession:NM_031496
Location:INTRON

Gene Symbol:PCDHA1
Accession:NM_031411
Location:INTRON

Gene Symbol:PCDHA2
Accession:NM_031495
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:23192925  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000034872 CLINVAR
dbSNP (RS) rs587776956 CLINVAR
MedGen C2986382 CLINVAR
NCBI Gene PCDHA1 CLINVAR
  PCDHA2 CLINVAR
  PCDHA3 CLINVAR
  PCDHA@ CLINVAR
OMIM 604966 CLINVAR
  606307 CLINVAR
  606308 CLINVAR
  606309 CLINVAR
OMIM Allele 606309.0001 CLINVAR