RGD:11349568 Rat Genome Database

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Variant: RGD:11349568 -  Homo sapiens

RGD ID: 11349568
RS ID: rs767514641
ClinVar ID: CV243579
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: JPH2  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 20 42,744,952
GRCh38 20 44,116,312
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
LRG_394t1:c.1363C>T
LRG_394:g.76267C>T
NG_031867.1:g.76267C>T
NC_000020.11:g.44116312G>A
More... 		11/12/2019 missense variant likely pathogenic|uncertain significance 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: R to W (nonsynonymous)
Amino Acid Position: 455
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MSGGRFDFDDGGAYCGGWEGGKAHGHGLCTGPKGQGEYSGSWNFGFEVAGVYTWPSGNTFEGYWSQGKRHGLGIETKGRW
LYKGEWTHGFKGRYGIRQSSSSGAKYEGTWNNGLQDGYGTETYADGGTYQGQFTNGMRHGYGVRQSVPYGMAVVVRSPLR
TSLSSLRSEHSNGTVAPDSPASPASDGPALPSPAIPRGGFALSLLANAEAAARAPKGGGLFQRGALLGKLRRAESRTSVG
SQRSRVSFLKSDLSSGASDAASTASLGEAAEGADEAAPFEADIDATTTETYMGEWKNDKRSGFGVSERSSGLRYEGEWLD
NLRHGYGCTTLPDGHREEGKYRHNVLVKDTKRRMLQLKSNKVRQKVEHSVEGAQRAAAIARQKAEIAASRTSHAKAKAEA
AEQAALAANQESNIARTLARELAPDFYQPGPEYQKRRLLQEILENSESLLEPPDWGAGAAGLPQPPRESPQLHERETPRP
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:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000231029 CLINVAR
  RCV002379019 CLINVAR
dbSNP (RS) rs767514641 CLINVAR
MedGen C0007194 CLINVAR
  CN230736 CLINVAR
NCBI Gene JPH2 CLINVAR
OMIM 605267 CLINVAR