RGD:126923174 Rat Genome Database

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Variant: RGD:126923174 -  Homo sapiens

RGD ID: 126923174
RS ID: rs368516996
ClinVar ID: CV1051717
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: JPH2  
Reference Nucleotide: C
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 20 42,788,598
GRCh38 20 44,159,958
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_020433.5:c.829G>T
LRG_394:g.32621G>T
NG_031867.1:g.32621G>T
NC_000020.11:g.44159958C>A
More... 		02/27/2020 missense variant uncertain significance Cardiomyopathy, dilated, 2E; Familial hypertrophic cardiomyopathy 17; HYPERTROPHIC MYOCARDIOPATHY
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: A to S (nonsynonymous)
Amino Acid Position: 277
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MSGGRFDFDDGGAYCGGWEGGKAHGHGLCTGPKGQGEYSGSWNFGFEVAGVYTWPSGNTFEGYWSQGKRHGLGIETKGRW
LYKGEWTHGFKGRYGIRQSSSSGAKYEGTWNNGLQDGYGTETYADGGTYQGQFTNGMRHGYGVRQSVPYGMAVVVRSPLR
TSLSSLRSEHSNGTVAPDSPASPASDGPALPSPAIPRGGFALSLLANAEAAARAPKGGGLFQRGALLGKLRRAESRTSVG
SQRSRVSFLKSDLSSGASDAASTASLGEAAEGADEASPFEADIDATTTETYMGEWKNDKRSGFGVSERSSGLRYEGEWLD
NLRHGYGCTTLPDGHREEGKYRHNVLVKDTKRRMLQLKSNKVRQKVEHSVEGAQRAAAIARQKAEIAASRTSHAKAKAEA
AEQAALAANQESNIARTLARELAPDFYQPGPEYQKRRLLQEILENSESLLEPPDRGAGAAGLPQPPRESPQLHERETPRP
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 RCV001365541 CLINVAR
  RCV002432029 CLINVAR
  RCV002493867 CLINVAR
dbSNP (RS) rs368516996 CLINVAR
MedGen C0007194 CLINVAR
  C3151264 CLINVAR
  CN230736 CLINVAR
NCBI Gene JPH2 CLINVAR
OMIM 605267 CLINVAR
  613873 CLINVAR
  619492 CLINVAR