RGD:127322605 Rat Genome Database

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Variant: RGD:127322605 -  Homo sapiens

RGD ID: 127322605
RS ID: rs530433203
ClinVar ID: CV1158869
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: JPH2  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 20 42,744,584
GRCh38 20 44,115,944
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.1731G>A
LRG_394:g.76635G>A
NG_031867.1:g.76635G>A
NC_000020.11:g.44115944C>T
More... 		10/05/2020 synonymous variant benign|likely benign 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: E to E (synonymous)
Amino Acid Position: 577
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MSGGRFDFDDGGAYCGGWEGGKAHGHGLCTGPKGQGEYSGSWNFGFEVAGVYTWPSGNTFEGYWSQGKRHGLGIETKGRW
LYKGEWTHGFKGRYGIRQSSSSGAKYEGTWNNGLQDGYGTETYADGGTYQGQFTNGMRHGYGVRQSVPYGMAVVVRSPLR
TSLSSLRSEHSNGTVAPDSPASPASDGPALPSPAIPRGGFALSLLANAEAAARAPKGGGLFQRGALLGKLRRAESRTSVG
SQRSRVSFLKSDLSSGASDAASTASLGEAAEGADEAAPFEADIDATTTETYMGEWKNDKRSGFGVSERSSGLRYEGEWLD
NLRHGYGCTTLPDGHREEGKYRHNVLVKDTKRRMLQLKSNKVRQKVEHSVEGAQRAAAIARQKAEIAASRTSHAKAKAEA
AEQAALAANQESNIARTLARELAPDFYQPGPEYQKRRLLQEILENSESLLEPPDRGAGAAGLPQPPRESPQLHERETPRP
EGGSPSPAGTPPQPKRPRPGVSKDGLLSPGAWNGEPSGEGSRSVTPSEGAGRRSPARPATERMAIEALQAPPAPSREPEV
ALYQGYHSYAVRTTPPEPPPFEDQPEPEVSGSESAPSSPATAPLQAPTLRGPEPARETPAKLEPKPIIPKAEPRAKARKT
EARGLTKAGAKKKARKEAALAAEAEVEVEEVPNTILICMVILLNIGLAILFVHLLT*

Gene Symbol:JPH2
Accession:XM_006723833
Location:INTRON

Gene Symbol:JPH2
Accession:NM_175913
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV001523586 CLINVAR
  RCV002414244 CLINVAR
dbSNP (RS) rs530433203 CLINVAR
MedGen C0007194 CLINVAR
  CN230736 CLINVAR
NCBI Gene JPH2 CLINVAR
OMIM 605267 CLINVAR