RGD:8657736 Rat Genome Database

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Variant: RGD:8657736 -  Homo sapiens

RGD ID: 8657736
ClinVar ID: CV81053
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: PCDHA1  PCDHA2  PCDHA3  PCDHA4  PCDHA@  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 5 140,188,254
GRCh38 5 140,808,669
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_018905.2:c.2388+11317G>A
NM_018906.2:c.2394+5078G>A
NC_000005.10:g.140808669G>A
NC_000005.9:g.140188254G>A
More... 		synonymous variant|intron variant not provided Malignant melanoma, somatic

Variant Details
Variant Transcripts
Gene Symbol:PCDHA4
Accession:NM_018907
Location:EXON
Amino Acid Prediction: L to L (synonymous)
Amino Acid Position: 494
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MEFSWGSGQESRRLLLLLLLLAAWEAGNGQLHYSVSEEAKHGTFVGRIAQDLGLELAELVPRLFRVASKGRGGLLEVNLQ
NGILFVNSRIDREELCRRSAECSIHLEVIVDRPLQVFHVDVEVRDINDNPPVFPATQKNLSIAESRPLDSRFPLEGASDA
DIGENALLTYRLSPNEYFSLEKPPDDELVKGLGLILRKSLDREEAPEIFLVLTATDGGKPELTGTVQLLITVLDANDNAP
AFDRTIYKVRLLENVPNGTLVIKLNASDLDEGLNGDIVYSFSNDISPNVKSKFHIDPITGQIIVKGYIDFEESKSYEIIV
EGIDKGQLPLSGHCRVIVEVEDNNDNVPDLEFKSLSLPIREDAPLGTVIALISVSDKDMGVNGLVTCSLTSHVPFKLVST
FKNYYSLVLDSALDRESVSAYELVVTARDGGSPSLWATASVSVEVADVNDNAPAFAQPEYTVFVKENNPPGCHIFTVSAW
DADAQENALVSYSLVERRVGERALSSYVSVHAESGKVYALQPLDHEELELLQFQVTARDAGVPPLGSNVTLQVFVLDEND
NAPALLAPRAGGTGGAVSELVPWSVGVGHVVAKVRAVDADSGYNAWLSYELQPGTGGARIPFRVGLYTGEISTTRALDET
DAPRHRLLVLVKDHGEPALTATATVLVSLVESGQAPKASSRALVGAVGPDAALVDVNVYLIIAICAVSSLLVLTLLLYTA
LRCSALPTEGACAPGKPTLVCSSAVGSWSYSQQRRPRVCSGEGPPKTDLMAFSPSLPDSRDREDQLQTTEESFAKPRQPN
PDWRYSASLRAGMHSSVHLEEAGILRAGPGGPDQQWPTVSSATPEPEAGEVSPPVGAGVNSNSWTFKYGPGNPKQSGPGE
LPDKFIIPGSPAIISIRQEPTNSQIDKSDFITFGKKEETKKKKKKKKGNKTQEKKEKGNSTTDNSDQ*

Gene Symbol:PCDHA4
Accession:NM_031500
Location:EXON
Amino Acid Prediction: L to L (synonymous)
Amino Acid Position: 494
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MEFSWGSGQESRRLLLLLLLLAAWEAGNGQLHYSVSEEAKHGTFVGRIAQDLGLELAELVPRLFRVASKGRGGLLEVNLQ
NGILFVNSRIDREELCRRSAECSIHLEVIVDRPLQVFHVDVEVRDINDNPPVFPATQKNLSIAESRPLDSRFPLEGASDA
DIGENALLTYRLSPNEYFSLEKPPDDELVKGLGLILRKSLDREEAPEIFLVLTATDGGKPELTGTVQLLITVLDANDNAP
AFDRTIYKVRLLENVPNGTLVIKLNASDLDEGLNGDIVYSFSNDISPNVKSKFHIDPITGQIIVKGYIDFEESKSYEIIV
EGIDKGQLPLSGHCRVIVEVEDNNDNVPDLEFKSLSLPIREDAPLGTVIALISVSDKDMGVNGLVTCSLTSHVPFKLVST
FKNYYSLVLDSALDRESVSAYELVVTARDGGSPSLWATASVSVEVADVNDNAPAFAQPEYTVFVKENNPPGCHIFTVSAW
DADAQENALVSYSLVERRVGERALSSYVSVHAESGKVYALQPLDHEELELLQFQVTARDAGVPPLGSNVTLQVFVLDEND
NAPALLAPRAGGTGGAVSELVPWSVGVGHVVAKVRAVDADSGYNAWLSYELQPGTGGARIPFRVGLYTGEISTTRALDET
DAPRHRLLVLVKDHGEPALTATATVLVSLVESGQAPKASSRALVGAVGPDAALVDVNVYLIIAICAVSSLLVLTLLLYTA
LRCSALPTEGACAPGKPTLVCSSAVGSWSYSQQRRPRVCSGEGPPKTDLMAFSPSLPDSRDREDQLQTTEESFAKVSV*

Gene Symbol:PCDHA1
Accession:NM_018900
Location:INTRON

Gene Symbol:PCDHA2
Accession:NM_031496
Location:INTRON

Gene Symbol:PCDHA2
Accession:NM_018905
Location:INTRON

Gene Symbol:PCDHA3
Accession:NM_031497
Location:INTRON

Gene Symbol:PCDHA1
Accession:NM_031410
Location:INTRON

Gene Symbol:PCDHA1
Accession:NM_031411
Location:INTRON

Gene Symbol:PCDHA2
Accession:NM_031495
Location:INTRON

Gene Symbol:PCDHA3
Accession:NM_018906
Location:INTRON

Variant Samples