RGD:401748791 Rat Genome Database

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Variant: RGD:401748791 - Homo sapiens

RGD ID:

401748791

ClinVar ID:

CV2708351

Genic Status:

GENIC

Type:

SNV (SO:0001483)

Associated Genes:

LOC112267934 LOC127404066 PCDHA1 PCDHA10 PCDHA11 PCDHA2 PCDHA3 PCDHA4 PCDHA5 PCDHA6 PCDHA7 PCDHA8 PCDHA9 PCDHA@

Reference Nucleotide:

Variant Nucleotide:

Position

Assembly	Chr	Position
GRCh37	5	140,250,301
GRCh38	5	140,870,716

JBrowse:

View Region in Genome Browser (JBrowse)

Model

HGVS Name(s)	Last Evaluated	Molecular Consequence	Clinical Significance	Trait Synonyms
NM_031860.3:c.1599+13069A>G NM_031849.3:c.1602+41023A>G NM_018907.4:c.2385+61144A>G NM_018901.4:c.2388+12280A>G More...	04/20/2023	intron variant	uncertain significance	AllHighlyPenetrant

Gene Symbol:	PCDHA11
Accession:	NM_018902
Location:	EXON
Amino Acid Prediction:	D to G (nonsynonymous)
Amino Acid Position:	538

Amino Acid Sequence (Calculated using NCBI transcript definition)
MFGFQRRGLGTPRLQLWLLLLEFWEVGSGQLHYSVSEEAKHGTFVGRIAQDLGLELAELVQRLFRVASKTHGDLLEVNLQ NGILFVNSRIDREELCGQSAECSIHLEVIVDRPLQVFHVNVEVKDINDNPPVFSLREQKLLIAESKQSDSRFPLEGASDA DIEENALLTYRLSKNEYFSLDSPTNGKQIKRLSLILKKSLDREKTPELNLLLTATDGGKPELTGTVRLLVQVLDVNDNDP EFDKSEYKVSLMENAAKETLVLKLNATDRDEGVNGEVTYSLMSIKPNGRHLFTLDQNNGEVRVNGTLDYEENKFYKIEVQ ATDKGTPPMAGHCTVWVEILDTNDNSPEVAVTSLSLPVREDAQPSTVIALISVSDRDSGVNGQVTCSLTPHVPFKLVSTF KNYYSLVLDSALDRENVWAYELVVTARDGGSPSLWATARVSVEVADVNDNAPAFAQPEYTVFVKENNPPGCHIFTVSARD ADAQENALVSYSLVERRLGDRALSSYVSVHAESGKVYALQPLDHEELELLQFQVSARGAGVPPLSSNVTLQVFVLDENDN APALLATQAGSAGGAVNKLVPRSVGAGHVVAKVRAVDADSGYNAWLSYELQPAAGGSRIPFRVGLYTGEISTTRALDEAD SPRHRLLVLVKDHGEPALTATATVLVSLVESGQAPKASSRTLAGAASPEAALVDVNVYLIIAICVVSSLLVLTLLLYTAL WWSATPTEGACAPGKPTLVCSRAVGSWSYSQQRRQRVCSEEGPPKTDLMAFSPSLPLGLNKEEEGERQEPGSNHPGQPRQ PNPDWRYSASLRAGMHSSVHLEEAGILRAGPGGPDQQWPTVSSATPEPEAGEVSPPVGAGVNSNSWTFKYGPGNPKQSGP GELPDKFIIPGSPAIISIRQEPTNSQIDKSDFITFGKKEETKKKKKKKKGNKTQEKKEKGNSTTDNSDQ*

Gene Symbol:	PCDHA11
Accession:	NM_031861
Location:	EXON
Amino Acid Prediction:	D to G (nonsynonymous)
Amino Acid Position:	538

Amino Acid Sequence (Calculated using NCBI transcript definition)
MFGFQRRGLGTPRLQLWLLLLEFWEVGSGQLHYSVSEEAKHGTFVGRIAQDLGLELAELVQRLFRVASKTHGDLLEVNLQ NGILFVNSRIDREELCGQSAECSIHLEVIVDRPLQVFHVNVEVKDINDNPPVFSLREQKLLIAESKQSDSRFPLEGASDA DIEENALLTYRLSKNEYFSLDSPTNGKQIKRLSLILKKSLDREKTPELNLLLTATDGGKPELTGTVRLLVQVLDVNDNDP EFDKSEYKVSLMENAAKETLVLKLNATDRDEGVNGEVTYSLMSIKPNGRHLFTLDQNNGEVRVNGTLDYEENKFYKIEVQ ATDKGTPPMAGHCTVWVEILDTNDNSPEVAVTSLSLPVREDAQPSTVIALISVSDRDSGVNGQVTCSLTPHVPFKLVSTF KNYYSLVLDSALDRENVWAYELVVTARDGGSPSLWATARVSVEVADVNDNAPAFAQPEYTVFVKENNPPGCHIFTVSARD ADAQENALVSYSLVERRLGDRALSSYVSVHAESGKVYALQPLDHEELELLQFQVSARGAGVPPLSSNVTLQVFVLDENDN APALLATQAGSAGGAVNKLVPRSVGAGHVVAKVRAVDADSGYNAWLSYELQPAAGGSRIPFRVGLYTGEISTTRALDEAD SPRHRLLVLVKDHGEPALTATATVLVSLVESGQAPKASSRTLAGAASPEAALVDVNVYLIIAICVVSSLLVLTLLLYTAL WWSATPTEGACAPGKPTLVCSRAVGSWSYSQQRRQRVCSEEGPPKTDLMAFSPSLPLGLNKEEEGERQEPGSNHPGQVSF LQIPPIRKCM*

Gene Symbol:	LOC112267934
Accession:	NR_164126
Location:	EXON;NON-CODING

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:	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:	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	RCV004313469	CLINVAR
MedGen	CN169374	CLINVAR
NCBI Gene	LOC112267934	CLINVAR
	PCDHA1	CLINVAR
	PCDHA10	CLINVAR
	PCDHA11	CLINVAR
	PCDHA2	CLINVAR
	PCDHA3	CLINVAR
	PCDHA4	CLINVAR
	PCDHA5	CLINVAR
	PCDHA6	CLINVAR
	PCDHA7	CLINVAR
	PCDHA8	CLINVAR
	PCDHA9	CLINVAR
	PCDHA@	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

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Variant: RGD:401748791 - Homo sapiens