RGD:329377949 Rat Genome Database

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Variant: RGD:329377949 -  Homo sapiens

RGD ID: 329377949
ClinVar ID: CV2458990
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: PCDHG@  PCDHGA1  PCDHGA10  PCDHGA11  PCDHGA12  PCDHGA2  PCDHGA3  PCDHGA4  PCDHGA5  PCDHGA6  PCDHGA7  PCDHGA8  PCDHGA9  PCDHGB1  PCDHGB2  PCDHGB3  PCDHGB4  PCDHGB5  PCDHGB6  PCDHGB7  PCDHGC3  PCDHGC4  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 5 140,864,903
GRCh38 5 141,485,336
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_001386884.1:c.12+151G>A
NM_018928.3:c.163G>A
NM_032406.1:c.163G>A
NM_032092.2:c.1879-9471G>A
More... 		02/14/2023 intron variant uncertain significance
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:PCDHGC4
Accession:NM_018928
Location:EXON
Amino Acid Prediction: D to N (nonsynonymous)
Amino Acid Position: 55
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MLRKVRSWTEIWRWATLLFLFYHLGYVCGQIRYPVPEESQEGTFVGNVAQDFLLNTDSLSARRLQVAGEVNQRHFRVDLD
SGALLIKNPIDREALCGLSASCIVPLEFVTEGPLEMYRAEVEIVDVNDHAPRFPRQQLDLEIGEAAPPGQRFPLEKAQDA
DVGSNSISSYRLSSNEHFALDVKKRSDGSLVPELLLEKPLDREKQSDYRLVLTAVDGGNPPRSGTAELRVSVLDVNDNAP
AFQQSSYRISVLESAPAGMVLIQLNASDPDLGPSGNVTFYFSGHTPDRVRNLFSLHPTTGKLTLLGPLDFESENYYEFDV
RARDGGSPAMEQHCSLRVDLLDVNDNAPYITVTSELGTLPESAEPGTVVALISVQDPDSGSNGDVSLRIPDHLPFALKSA
FRNQFSLVTAGPLDREAKSSYDIMVTASDAGNPPLSTHRTIFLNISDVNDNPPSFFQRSHEVFVPENNRPGDLLCSLAAS
DPDSGLNALISYSLLEPRNRDVSASSFISLNPQTGAVHATRSFDYEQTQTLQFEVQARDRGNPPLSSTVTVRLFVLDLND
NAPAVLRPRARPGSLCPQALPPSVGAGHLITKVTAVDLDSGYNAWVSYQLLEAPDPSLFAVSRYAGEVRTAVPIPADLPP
QKLVIVVKDSGSPPLSTSVTLLVSLEEDTHPVVPDLRESSAPREGESRLTLYLAVSLVAICFVSFGSFVALLSKCLRGAA
CGVTCFPAGTCACLTRSRRREGLPPSNGILRIQLGSDDPIKFVDVGGHSHGCTPLASAPTRSDSFMMVKSPSAPMAGEPV
RPSCPPSDLLYGLEQAPPNTDWRFSQAQRPGTSGSQNGDDTGTWPNNQFDTEMLQAMILASASEAADGSSTLGGGAGTMG
LSARYGPQFTLQHVPDYRQNVYIPGSNATLTNAAGKRDGKAPAGGNGNKKKSGKKEKK*

Gene Symbol:PCDHGC4
Accession:NM_032406
Location:EXON
Amino Acid Prediction: D to N (nonsynonymous)
Amino Acid Position: 55
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MLRKVRSWTEIWRWATLLFLFYHLGYVCGQIRYPVPEESQEGTFVGNVAQDFLLNTDSLSARRLQVAGEVNQRHFRVDLD
SGALLIKNPIDREALCGLSASCIVPLEFVTEGPLEMYRAEVEIVDVNDHAPRFPRQQLDLEIGEAAPPGQRFPLEKAQDA
DVGSNSISSYRLSSNEHFALDVKKRSDGSLVPELLLEKPLDREKQSDYRLVLTAVDGGNPPRSGTAELRVSVLDVNDNAP
AFQQSSYRISVLESAPAGMVLIQLNASDPDLGPSGNVTFYFSGHTPDRVRNLFSLHPTTGKLTLLGPLDFESENYYEFDV
RARDGGSPAMEQHCSLRVDLLDVNDNAPYITVTSELGTLPESAEPGTVVALISVQDPDSGSNGDVSLRIPDHLPFALKSA
FRNQFSLVTAGPLDREAKSSYDIMVTASDAGNPPLSTHRTIFLNISDVNDNPPSFFQRSHEVFVPENNRPGDLLCSLAAS
DPDSGLNALISYSLLEPRNRDVSASSFISLNPQTGAVHATRSFDYEQTQTLQFEVQARDRGNPPLSSTVTVRLFVLDLND
NAPAVLRPRARPGSLCPQALPPSVGAGHLITKVTAVDLDSGYNAWVSYQLLEAPDPSLFAVSRYAGEVRTAVPIPADLPP
QKLVIVVKDSGSPPLSTSVTLLVSLEEDTHPVVPDLRESSAPREGESRLTLYLAVSLVAICFVSFGSFVALLSKCLRGAA
CGVTCFPAGTCACLTRSRRREGLPPSNGILRIQLGSDDPIKFVDVGGHSHGCTPLASAPTRSDSFMMVKSPSAPMAGEPV
RPSCPPSDLLYGLEVRPLQAQQMLEGYSDPGIWLGHVLESTGLSVSAHSDVTIFVRGNYVVDAVLCNCFVN*

Gene Symbol:PCDHGA3
Accession:NM_018916
Location:INTRON

Gene Symbol:PCDHGA6
Accession:NM_018919
Location:INTRON

Gene Symbol:PCDHGB7
Accession:NM_032101
Location:INTRON

Gene Symbol:PCDHGA12
Accession:NM_032094
Location:INTRON

Gene Symbol:PCDHGB4
Accession:NM_032098
Location:INTRON

Gene Symbol:PCDHGB3
Accession:NM_018924
Location:INTRON

Gene Symbol:PCDHGC3
Accession:NM_032402
Location:INTRON

Gene Symbol:PCDHGA11
Accession:NM_032091
Location:INTRON

Gene Symbol:PCDHGB6
Accession:NM_032100
Location:INTRON

Gene Symbol:PCDHGB5
Accession:NM_018925
Location:INTRON

Gene Symbol:PCDHGA6
Accession:NM_032086
Location:INTRON

Gene Symbol:PCDHGB3
Accession:NM_032097
Location:INTRON

Gene Symbol:PCDHGA12
Accession:NM_003735
Location:INTRON

Gene Symbol:PCDHGA2
Accession:NM_018915
Location:INTRON

Gene Symbol:PCDHGA3
Accession:NM_032011
Location:INTRON

Gene Symbol:PCDHGB6
Accession:NM_018926
Location:INTRON

Gene Symbol:PCDHGA1
Accession:NM_031993
Location:INTRON

Gene Symbol:PCDHGC3
Accession:NM_032403
Location:INTRON

Gene Symbol:PCDHGA7
Accession:NM_018920
Location:INTRON

Gene Symbol:PCDHGA7
Accession:NM_032087
Location:INTRON

Gene Symbol:PCDHGB4
Accession:NM_003736
Location:INTRON

Gene Symbol:PCDHGB2
Accession:NM_018923
Location:INTRON

Gene Symbol:PCDHGB2
Accession:NM_032096
Location:INTRON

Gene Symbol:PCDHGA10
Accession:NM_032090
Location:INTRON

Gene Symbol:PCDHGC4
Accession:NM_001386884
Location:INTRON

Gene Symbol:PCDHGA2
Accession:NM_032009
Location:INTRON

Gene Symbol:PCDHGA1
Accession:NM_018912
Location:INTRON

Gene Symbol:PCDHGA9
Accession:NM_032089
Location:INTRON

Gene Symbol:PCDHGA4
Accession:NM_032053
Location:INTRON

Gene Symbol:PCDHGA8
Accession:NM_032088
Location:INTRON

Gene Symbol:PCDHGA11
Accession:NM_032092
Location:INTRON

Gene Symbol:PCDHGB5
Accession:NM_032099
Location:INTRON

Gene Symbol:PCDHGA9
Accession:NM_018921
Location:INTRON

Gene Symbol:PCDHGA4
Accession:NM_018917
Location:INTRON

Gene Symbol:PCDHGA8
Accession:NM_014004
Location:INTRON

Gene Symbol:PCDHGB1
Accession:NM_018922
Location:INTRON

Gene Symbol:PCDHGB6
Accession:NM_001386906
Location:INTRON

Gene Symbol:PCDHGA10
Accession:NM_018913
Location:INTRON

Gene Symbol:PCDHGA11
Accession:NM_018914
Location:INTRON

Gene Symbol:PCDHGC3
Accession:NM_002588
Location:INTRON

Gene Symbol:PCDHGA5
Accession:NM_018918
Location:INTRON

Gene Symbol:PCDHGB1
Accession:NM_032095
Location:INTRON

Gene Symbol:PCDHGB7
Accession:NM_018927
Location:INTRON

Gene Symbol:PCDHGA5
Accession:NM_032054
Location:INTRON

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV003212014 CLINVAR
MedGen C0950123 CLINVAR
NCBI Gene PCDHG@ CLINVAR
  PCDHGA1 CLINVAR
  PCDHGA10 CLINVAR
  PCDHGA11 CLINVAR
  PCDHGA12 CLINVAR
  PCDHGA2 CLINVAR
  PCDHGA3 CLINVAR
  PCDHGA4 CLINVAR
  PCDHGA5 CLINVAR
  PCDHGA6 CLINVAR
  PCDHGA7 CLINVAR
  PCDHGA8 CLINVAR
  PCDHGA9 CLINVAR
  PCDHGB1 CLINVAR
  PCDHGB2 CLINVAR
  PCDHGB3 CLINVAR
  PCDHGB4 CLINVAR
  PCDHGB5 CLINVAR
  PCDHGB6 CLINVAR
  PCDHGB7 CLINVAR
  PCDHGC3 CLINVAR
  PCDHGC4 CLINVAR
OMIM 603058 CLINVAR
  603059 CLINVAR
  603627 CLINVAR
  604968 CLINVAR
  606288 CLINVAR
  606289 CLINVAR
  606290 CLINVAR
  606291 CLINVAR
  606292 CLINVAR
  606293 CLINVAR
  606294 CLINVAR
  606295 CLINVAR
  606296 CLINVAR
  606297 CLINVAR
  606298 CLINVAR
  606299 CLINVAR
  606300 CLINVAR
  606301 CLINVAR
  606302 CLINVAR
  606303 CLINVAR
  606304 CLINVAR
  606305 CLINVAR