RGD:401915109 Rat Genome Database
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Summary
ClinVar Data
Variant Details
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Variant Samples
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Variant: RGD:401915109 - Homo sapiens
RGD ID:
401915109
ClinVar ID:
CV2825281
Genic Status:
GENIC
Type:
SNV
(SO:0001483)
Associated Genes:
PCDHA1
PCDHA10
PCDHA14
PCDHA2
PCDHA3
PCDHA4
PCDHA5
PCDHA6
PCDHA7
PCDHA8
PCDHA9
PCDHA@
Reference Nucleotide:
C
Variant Nucleotide:
T
Position
Assembly
Chr
Position
GRCh37
5
140,242,816
GRCh38
5
140,863,231
JBrowse:
View Region in Genome Browser (JBrowse)
Model
Annotation
Click to see Annotation Summary View
ClinVar Data
HGVS Name(s)
Last Evaluated
Molecular Consequence
Clinical Significance
Trait Synonyms
NM_018907.4:c.2385+53659C>T
NM_018901.4:c.2388+4795C>T
NM_018905.3:c.2388+65879C>T
NM_031857.2:c.2394+12342C>T
NM_018911.3:c.2394+19516C>T
NM_018909.4:c.2394+32746C>T
NM_018906.3:c.2394+59640C>T
NM_018900.4:c.2394+74547C>T
NG_050674.1:g.12349C>T
NG_000016.2:g.129104C>T
NG_050675.1:g.67034C>T
NG_050677.1:g.73373C>T
NC_000005.10:g.140863231C>T
NM_031859.3:c.*4648C>T
NM_031860.3:c.1599+5584C>T
NM_031849.3:c.1602+33538C>T
NM_031411.3:c.1602+75339C>T
NM_018908.3:c.2352+39104C>T
NM_018910.3:c.2355+26493C>T
NC_000005.9:g.140242816C>T
More...
03/01/2023
3 prime utr variant
likely benign
none provided; RECLASSIFIED - ADRA2C POLYMORPHISM; RECLASSIFIED - ADRB1 POLYMORPHISM
Variant Details
Variant Transcripts
Gene Symbol:
PCDHA10
Accession:
NM_031859
Location:
3UTRS;EXON
Gene Symbol:
PCDHA6
Accession:
NM_031849
Location:
INTRON
Gene Symbol:
PCDHA8
Accession:
NM_031856
Location:
INTRON
Gene Symbol:
PCDHA7
Accession:
NM_031852
Location:
INTRON
Gene Symbol:
PCDHA3
Accession:
NM_031497
Location:
INTRON
Gene Symbol:
PCDHA3
Accession:
NM_018906
Location:
INTRON
Gene Symbol:
PCDHA4
Accession:
NM_031500
Location:
INTRON
Gene Symbol:
PCDHA9
Accession:
NM_031857
Location:
INTRON
Gene Symbol:
PCDHA9
Accession:
NM_014005
Location:
INTRON
Gene Symbol:
PCDHA1
Accession:
NM_031410
Location:
INTRON
Gene Symbol:
PCDHA4
Accession:
NM_018907
Location:
INTRON
Gene Symbol:
PCDHA1
Accession:
NM_031411
Location:
INTRON
Gene Symbol:
PCDHA10
Accession:
NM_018901
Location:
INTRON
Gene Symbol:
PCDHA10
Accession:
NM_031860
Location:
INTRON
Gene Symbol:
PCDHA2
Accession:
NM_018905
Location:
INTRON
Gene Symbol:
PCDHA6
Accession:
NM_031848
Location:
INTRON
Gene Symbol:
PCDHA8
Accession:
NM_018911
Location:
INTRON
Gene Symbol:
PCDHA1
Accession:
NM_018900
Location:
INTRON
Gene Symbol:
PCDHA2
Accession:
NM_031495
Location:
INTRON
Gene Symbol:
PCDHA5
Accession:
NM_031501
Location:
INTRON
Gene Symbol:
PCDHA2
Accession:
NM_031496
Location:
INTRON
Gene Symbol:
PCDHA6
Accession:
NM_018909
Location:
INTRON
Gene Symbol:
PCDHA5
Accession:
NM_018908
Location:
INTRON
Gene Symbol:
PCDHA7
Accession:
NM_018910
Location:
INTRON
.
Variant Samples
1 to 1 of 1 rows
10
20
30
40
100
All Rows
ClinVar GRCh37
ClinVar GRCh38
1 to 1 of 1 rows
10
20
30
40
100
All Rows
Additional Information
External Database Links
1 to 24 of 24 rows
3
5
10
20
40
100
All Rows
Database
Acc Id
Source(s)
ClinVar
RCV003428627
CLINVAR
MedGen
C3661900
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
1 to 24 of 24 rows
3
5
10
20
40
100
All Rows