RGD:10055799 Rat Genome Database

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Variant: RGD:10055799 -  Homo sapiens

RGD ID: 10055799
RS ID: rs765754956
ClinVar ID: CV198529
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: JPH2  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 20 42,744,891
GRCh38 20 44,116,251
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
LRG_394t1:c.1424G>A
LRG_394:g.76328G>A
NG_031867.1:g.76328G>A
NC_000020.11:g.44116251C>T
More... 		04/17/2019 missense variant benign|likely benign|uncertain significance AllHighlyPenetrant; Cardiomyopathies; HYPERTROPHIC MYOCARDIOPATHY; none provided
Disease Annotations     Click to see Annotation Detail View

Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype

Variant Details
Variant Transcripts
Gene Symbol:JPH2
Accession:NM_020433
Location:EXON
Amino Acid Prediction: R to H (nonsynonymous)
Amino Acid Position: 475
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MSGGRFDFDDGGAYCGGWEGGKAHGHGLCTGPKGQGEYSGSWNFGFEVAGVYTWPSGNTFEGYWSQGKRHGLGIETKGRW
LYKGEWTHGFKGRYGIRQSSSSGAKYEGTWNNGLQDGYGTETYADGGTYQGQFTNGMRHGYGVRQSVPYGMAVVVRSPLR
TSLSSLRSEHSNGTVAPDSPASPASDGPALPSPAIPRGGFALSLLANAEAAARAPKGGGLFQRGALLGKLRRAESRTSVG
SQRSRVSFLKSDLSSGASDAASTASLGEAAEGADEAAPFEADIDATTTETYMGEWKNDKRSGFGVSERSSGLRYEGEWLD
NLRHGYGCTTLPDGHREEGKYRHNVLVKDTKRRMLQLKSNKVRQKVEHSVEGAQRAAAIARQKAEIAASRTSHAKAKAEA
AEQAALAANQESNIARTLARELAPDFYQPGPEYQKRRLLQEILENSESLLEPPDRGAGAAGLPQPPRESPQLHEHETPRP
EGGSPSPAGTPPQPKRPRPGVSKDGLLSPGAWNGEPSGEGSRSVTPSEGAGRRSPARPATERMAIEALQAPPAPSREPEV
ALYQGYHSYAVRTTPPEPPPFEDQPEPEVSGSESAPSSPATAPLQAPTLRGPEPARETPAKLEPKPIIPKAEPRAKARKT
EARGLTKAGAKKKARKEAALAAEAEVEVEEVPNTILICMVILLNIGLAILFVHLLT*

Gene Symbol:JPH2
Accession:NM_175913
Location:INTRON

Gene Symbol:JPH2
Accession:XM_006723833
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:25741868   PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000183474 CLINVAR
  RCV000528093 CLINVAR
  RCV000618523 CLINVAR
  RCV000852951 CLINVAR
  RCV001721141 CLINVAR
  RCV003947546 CLINVAR
dbSNP (RS) rs765754956 CLINVAR
MedGen C0007194 CLINVAR
  C0878544 CLINVAR
  C3661900 CLINVAR
  CN169374 CLINVAR
  CN230736 CLINVAR
NCBI Gene JPH2 CLINVAR
OMIM 605267 CLINVAR
SNOMED CT 85898001 CLINVAR