RGD:407483035 Rat Genome Database

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Variant: RGD:407483035 - Homo sapiens

RGD ID:

407483035

ClinVar ID:

CV3463063

Genic Status:

GENIC

Type:

SNV (SO:0001483)

Associated Genes:

PCDHA1 PCDHA10 PCDHA11 PCDHA12 PCDHA13 PCDHA2 PCDHA3 PCDHA4 PCDHA5 PCDHA6 PCDHA7 PCDHA8 PCDHA9 PCDHA@ PCDHAC1

Reference Nucleotide:

Variant Nucleotide:

Position

Assembly	Chr	Position
GRCh37	5	140,307,505
GRCh38	5	140,927,920

JBrowse:

View Region in Genome Browser (JBrowse)

Model

HGVS Name(s)	Last Evaluated	Molecular Consequence	Clinical Significance	Trait Synonyms
NM_018898.5:c.1028T>C NM_031860.3:c.1600-51029T>C NM_031411.3:c.1603-51029T>C NM_031849.3:c.1603-51029T>C More...	05/29/2024	intron variant	uncertain significance	AllHighlyPenetrant

Gene Symbol:	PCDHAC1
Accession:	NM_018898
Location:	EXON
Amino Acid Prediction:	L to P (nonsynonymous)
Amino Acid Position:	343

Amino Acid Sequence (Calculated using NCBI transcript definition)
MVGCGVAVLCLWVSCGAAAGQLEYSVPEETERGVAVGNLSADLRLPAAAMSSRNFRFLSSHRELYFGVDLPSGNLVVREP ADREQLCRAKAACVLTYDLVLEDPLELHKIRIHVLDTNDNSPLFPAGDVQLHIPEFLTPGARFTLPNAQDDDEGSNGILS YSLSPSQHFRLDMGSRVDGSEYPELVLEKALDREQRATHLLVLTARDGGLPARSGDAQVTIIVVDTNDNAPVFERSVYRT KVPETAPNGTVLFRVQALDPDEGSNGEVQYSLSNSTQAELRHRFHVHPKSGEVQVAASLGPPETLLEAYIEARDEGVFGL ASTAKLLVEVTDVNDHAPELDFPTLSNPVPEDAAPGTVIALFSVKDEDLDSNGRVICGMSSAGPFQLTASFDNYYSLLID GPLDREQISEYQVLITASDSGSPPLSTRRTITVSVADVNDNTPNFPQPQQELFVAENNGPGASLGRVFAQDPDLGKNGLV SYELLDVISEGPSASSLLAVESSSGAITAKTSFDFEQLRGFHFQVEGRDGGIPPRSATVTINLFVVDRNDNYPVILFPLP RNGSVPVEIVPRSARTGHLVTKVVAEDADSGSNAWLSYHISRASDSSLFRISANIGELRTARLVLPTDAVKQRVVVVVRD HGDPPLSSSVTLGVLLSNSVPQLLPDFEDVWEPGGQLSAQNLYLVIALACISFLFLGCLLFFVCTKLHQSPGCCAQSCCR STEDLRYGSKMVSNPCMTSATIDVTTVERLSQTYLYRASLGLGSDNNSLLLRGEYNAADLRNLATGVGLNLPISCIQIRN RKGDHANVNAMPRQPNPDWRYSASLRAGMHSSVHLEEAGILRAGPGGPDQQWPTVSSATPEPEAGEVSPPVGAGVNSNSW TFKYGPGNPKQSGPGELPDKFIIPGSPAIISIRQEPTNSQIDKSDFITFGKKEETKKKKKKKKGNKTQEKKEKGNSTTDN SDQ*

Gene Symbol:	PCDHAC1
Accession:	NM_031882
Location:	EXON
Amino Acid Prediction:	L to P (nonsynonymous)
Amino Acid Position:	343

Amino Acid Sequence (Calculated using NCBI transcript definition)
MVGCGVAVLCLWVSCGAAAGQLEYSVPEETERGVAVGNLSADLRLPAAAMSSRNFRFLSSHRELYFGVDLPSGNLVVREP ADREQLCRAKAACVLTYDLVLEDPLELHKIRIHVLDTNDNSPLFPAGDVQLHIPEFLTPGARFTLPNAQDDDEGSNGILS YSLSPSQHFRLDMGSRVDGSEYPELVLEKALDREQRATHLLVLTARDGGLPARSGDAQVTIIVVDTNDNAPVFERSVYRT KVPETAPNGTVLFRVQALDPDEGSNGEVQYSLSNSTQAELRHRFHVHPKSGEVQVAASLGPPETLLEAYIEARDEGVFGL ASTAKLLVEVTDVNDHAPELDFPTLSNPVPEDAAPGTVIALFSVKDEDLDSNGRVICGMSSAGPFQLTASFDNYYSLLID GPLDREQISEYQVLITASDSGSPPLSTRRTITVSVADVNDNTPNFPQPQQELFVAENNGPGASLGRVFAQDPDLGKNGLV SYELLDVISEGPSASSLLAVESSSGAITAKTSFDFEQLRGFHFQVEGRDGGIPPRSATVTINLFVVDRNDNYPVILFPLP RNGSVPVEIVPRSARTGHLVTKVVAEDADSGSNAWLSYHISRASDSSLFRISANIGELRTARLVLPTDAVKQRVVVVVRD HGDPPLSSSVTLGVLLSNSVPQLLPDFEDVWEPGGQLSAQNLYLVIALACISFLFLGCLLFFVCTKLHQSPGCCAQSCCR STEDLRYGSKMVSNPCMTSATIDVTTVERLSQTYLYRASLGLGSDNNSLLLRGEYNAADLRNLATGVGLNLPISCIQIRN RKGDHANVNAMVSKFYGI*

Gene Symbol:	PCDHA9
Accession:	NM_031857
Location:	INTRON

Gene Symbol:	PCDHA9
Accession:	NM_014005
Location:	INTRON

Gene Symbol:	PCDHA1
Accession:	NM_018900
Location:	INTRON

Gene Symbol:	PCDHA1
Accession:	NM_031411
Location:	INTRON

Gene Symbol:	PCDHA1
Accession:	NM_031410
Location:	INTRON

Gene Symbol:	PCDHA2
Accession:	NM_018905
Location:	INTRON

Gene Symbol:	PCDHA2
Accession:	NM_031495
Location:	INTRON

Gene Symbol:	PCDHA10
Accession:	NM_018901
Location:	INTRON

Gene Symbol:	PCDHA10
Accession:	NM_031860
Location:	INTRON

Gene Symbol:	PCDHA10
Accession:	NM_031859
Location:	INTRON

Gene Symbol:	PCDHA11
Accession:	NM_018902
Location:	INTRON

Gene Symbol:	PCDHA11
Accession:	NM_031861
Location:	INTRON

Gene Symbol:	PCDHA12
Accession:	NM_018903
Location:	INTRON

Gene Symbol:	PCDHA12
Accession:	NM_031864
Location:	INTRON

Gene Symbol:	PCDHA8
Accession:	NM_018911
Location:	INTRON

Gene Symbol:	PCDHA8
Accession:	NM_031856
Location:	INTRON

Gene Symbol:	PCDHA5
Accession:	NM_018908
Location:	INTRON

Gene Symbol:	PCDHA5
Accession:	NM_031501
Location:	INTRON

Gene Symbol:	PCDHA6
Accession:	NM_018909
Location:	INTRON

Gene Symbol:	PCDHA6
Accession:	NM_031849
Location:	INTRON

Gene Symbol:	PCDHA6
Accession:	NM_031848
Location:	INTRON

Gene Symbol:	PCDHA7
Accession:	NM_018910
Location:	INTRON

Gene Symbol:	PCDHA7
Accession:	NM_031852
Location:	INTRON

Gene Symbol:	PCDHA3
Accession:	NM_018906
Location:	INTRON

Gene Symbol:	PCDHA3
Accession:	NM_031497
Location:	INTRON

Gene Symbol:	PCDHA13
Accession:	NM_018904
Location:	INTRON

Gene Symbol:	PCDHA13
Accession:	NM_031865
Location:	INTRON

Gene Symbol:	PCDHA4
Accession:	NM_018907
Location:	INTRON

Gene Symbol:	PCDHA4
Accession:	NM_031500
Location:	INTRON

Gene Symbol:	PCDHA2
Accession:	NM_031496
Location:	INTRON

ClinVar GRCh37	ClinVar GRCh38

Database	Acc Id	Source(s)
ClinVar	RCV004653150	CLINVAR
MedGen	CN169374	CLINVAR
NCBI Gene	PCDHA1	CLINVAR
	PCDHA10	CLINVAR
	PCDHA11	CLINVAR
	PCDHA12	CLINVAR
	PCDHA13	CLINVAR
	PCDHA2	CLINVAR
	PCDHA3	CLINVAR
	PCDHA4	CLINVAR
	PCDHA5	CLINVAR
	PCDHA6	CLINVAR
	PCDHA7	CLINVAR
	PCDHA8	CLINVAR
	PCDHA9	CLINVAR
	PCDHA@	CLINVAR
	PCDHAC1	CLINVAR
OMIM	604966	CLINVAR
	606307	CLINVAR
	606308	CLINVAR
	606309	CLINVAR
	606310	CLINVAR
	606311	CLINVAR
	606312	CLINVAR
	606313	CLINVAR
	606314	CLINVAR
	606315	CLINVAR
	606316	CLINVAR
	606317	CLINVAR
	606318	CLINVAR
	606319	CLINVAR
	606320	CLINVAR

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Variant: RGD:407483035 - Homo sapiens