RGD:407485934 Rat Genome Database

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Variant: RGD:407485934 - Homo sapiens

RGD ID:

407485934

ClinVar ID:

CV3462945

Genic Status:

GENIC

Type:

SNV (SO:0001483)

Associated Genes:

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

Reference Nucleotide:

Variant Nucleotide:

Position

Assembly	Chr	Position
GRCh37	5	140,237,135
GRCh38	5	140,857,550

JBrowse:

View Region in Genome Browser (JBrowse)

Model

HGVS Name(s)	Last Evaluated	Molecular Consequence	Clinical Significance	Trait Synonyms
NM_018909.4:c.2394+27065G>C NM_018906.3:c.2394+53959G>C NM_031857.2:c.2394+6661G>C NM_018900.4:c.2394+68866G>C More...	04/12/2024	intron variant	uncertain significance	AllHighlyPenetrant

Gene Symbol:	PCDHA10
Accession:	NM_018901
Location:	EXON
Amino Acid Prediction:	R to P (nonsynonymous)
Amino Acid Position:	501

Amino Acid Sequence (Calculated using NCBI transcript definition)
MVSRCSCLGVQCLLLSLLLLAAWEVGSGQLHYSVYEEARHGTFVGRIAQDLGLELAELVQRLFRVASKRHGDLLEVNLQN GILFVNSRIDREELCGRSVECSIHLEVIVDRPLQVFHVDVEVKDINDNPPRFSVTEQKLSIPESRLLDSRFPLEGASDAD VGENALLTYKLSPNEYFVLDIINKKDKDKFPVLVLRKLLDREENPQLKLLLTATDGGKPEFTGSVSLLILVLDANDNAPI FDRPVYEVKMYENQVNQTLVIRLNASDSDEGINKEMMYSFSSLVPPTIRRKFWINERTGEIKVNDAIDFEDSNTYEIHVD VTDKGNPPMVGHCTVLVELLDENDNSPEVIVTSLSLPVKEDAQVGTVIALISVSDHDSGANGQVTCSLTPHVPFKLVSTY KNYYSLVLDSALDRERVSAYELVVTARDGGSPPLWATASVSVEVADVNDNAPAFAQSEYTVFVKENNPPGCHIFTVSAWD ADAQENALVSYSLVERRLGEPSLSSYVSVHAESGKVYALQPLDHEELELLQFQVSARDGGVPPLGSNLTLQVFVLDENDN APALLASPAGSAGGAVSELVLRSVVAGHVVAKVRAVDADSGYNAWLSYELQSAAVGARIPFRVGLYTGEISTTRALDETD SPRQRLLVLVKDHGEPSLTATATVLVSLVEGSQAPKASSRASVGVAPEVALVDVNVYLIIAICAVSSLLVLTLLLYTALR CSAAPTEGACGPVKPTLVCSSAVGSWSYSQQRRQRVCSGEGLPKADLMAFSPSLPPCPMVDVDGEDQSIGGDHSRKPRQP NPDWRYSASLRAGMHSSVHLEEAGILRAGPGGPDQQWPTVSSATPEPEAGEVSPPVGAGVNSNSWTFKYGPGNPKQSGPG ELPDKFIIPGSPAIISIRQEPTNSQIDKSDFITFGKKEETKKKKKKKKGNKTQEKKEKGNSTTDNSDQ*

Gene Symbol:	PCDHA10
Accession:	NM_031860
Location:	EXON
Amino Acid Prediction:	R to P (nonsynonymous)
Amino Acid Position:	501

Amino Acid Sequence (Calculated using NCBI transcript definition)
MVSRCSCLGVQCLLLSLLLLAAWEVGSGQLHYSVYEEARHGTFVGRIAQDLGLELAELVQRLFRVASKRHGDLLEVNLQN GILFVNSRIDREELCGRSVECSIHLEVIVDRPLQVFHVDVEVKDINDNPPRFSVTEQKLSIPESRLLDSRFPLEGASDAD VGENALLTYKLSPNEYFVLDIINKKDKDKFPVLVLRKLLDREENPQLKLLLTATDGGKPEFTGSVSLLILVLDANDNAPI FDRPVYEVKMYENQVNQTLVIRLNASDSDEGINKEMMYSFSSLVPPTIRRKFWINERTGEIKVNDAIDFEDSNTYEIHVD VTDKGNPPMVGHCTVLVELLDENDNSPEVIVTSLSLPVKEDAQVGTVIALISVSDHDSGANGQVTCSLTPHVPFKLVSTY KNYYSLVLDSALDRERVSAYELVVTARDGGSPPLWATASVSVEVADVNDNAPAFAQSEYTVFVKENNPPGCHIFTVSAWD ADAQENALVSYSLVERRLGEPSLSSYVSVHAESGKVYALQPLDHEELELLQFQPRQPNPDWRYSASLRAGMHSSVHLEEA GILRAGPGGPDQQWPTVSSATPEPEAGEVSPPVGAGVNSNSWTFKYGPGNPKQSGPGELPDKFIIPGSPAIISIRQEPTN SQIDKSDFITFGKKEETKKKKKKKKGNKTQEKKEKGNSTTDNSDQ*

Gene Symbol:	PCDHA10
Accession:	NM_031859
Location:	EXON
Amino Acid Prediction:	R to P (nonsynonymous)
Amino Acid Position:	501

Amino Acid Sequence (Calculated using NCBI transcript definition)
MVSRCSCLGVQCLLLSLLLLAAWEVGSGQLHYSVYEEARHGTFVGRIAQDLGLELAELVQRLFRVASKRHGDLLEVNLQN GILFVNSRIDREELCGRSVECSIHLEVIVDRPLQVFHVDVEVKDINDNPPRFSVTEQKLSIPESRLLDSRFPLEGASDAD VGENALLTYKLSPNEYFVLDIINKKDKDKFPVLVLRKLLDREENPQLKLLLTATDGGKPEFTGSVSLLILVLDANDNAPI FDRPVYEVKMYENQVNQTLVIRLNASDSDEGINKEMMYSFSSLVPPTIRRKFWINERTGEIKVNDAIDFEDSNTYEIHVD VTDKGNPPMVGHCTVLVELLDENDNSPEVIVTSLSLPVKEDAQVGTVIALISVSDHDSGANGQVTCSLTPHVPFKLVSTY KNYYSLVLDSALDRERVSAYELVVTARDGGSPPLWATASVSVEVADVNDNAPAFAQSEYTVFVKENNPPGCHIFTVSAWD ADAQENALVSYSLVERRLGEPSLSSYVSVHAESGKVYALQPLDHEELELLQFQVSARDGGVPPLGSNLTLQVFVLDENDN APALLASPAGSAGGAVSELVLRSVVAGHVVAKVRAVDADSGYNAWLSYELQSAAVGARIPFRVGLYTGEISTTRALDETD SPRQRLLVLVKDHGEPSLTATATVLVSLVEGSQAPKASSRASVGVAPEVALVDVNVYLIIAICAVSSLLVLTLLLYTALR CSAAPTEGACGPVKPTLVCSSAVGSWSYSQQRRQRVCSGEGLPKADLMAFSPSLPPCPMVDVDGEDQSIGGDHSRKVGYY VFIFLLCFMNNIFSYRIFSNMYQNISFLSTFHLCLNISSDTFVI*

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:	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	RCV004664320	CLINVAR
MedGen	CN169374	CLINVAR
NCBI Gene	PCDHA1	CLINVAR
	PCDHA10	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

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Gene Annotator (Annotation Comparison) unavailable	OLGA (Gene List Generator) unavailable
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Variant: RGD:407485934 - Homo sapiens