RGD:8602221 Rat Genome Database

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Variant: RGD:8602221 -  Homo sapiens

RGD ID: 8602221
RS ID: rs387906897
ClinVar ID: CV39413
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: JPH2  
Reference Nucleotide: A
Variant Nucleotide: G
Position
Assembly Chr Position
GRCh37 20 42,789,006
GRCh38 20 44,160,366
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
LRG_394t1:c.421T>C
LRG_394:g.32213T>C
NG_031867.1:g.32213T>C
NC_000020.11:g.44160366A>G
More... 		06/16/2020 missense|missense variant pathogenic|likely pathogenic|uncertain significance Familial hypertrophic cardiomyopathy 1; Familial hypertrophic cardiomyopathy 17; MYH7-Related Familial Hypertrophic Cardiomyopathy; none provided
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:JPH2
Accession:NM_020433
Location:EXON
Amino Acid Prediction: Y to H (nonsynonymous)
Amino Acid Position: 141
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MSGGRFDFDDGGAYCGGWEGGKAHGHGLCTGPKGQGEYSGSWNFGFEVAGVYTWPSGNTFEGYWSQGKRHGLGIETKGRW
LYKGEWTHGFKGRYGIRQSSSSGAKYEGTWNNGLQDGYGTETYADGGTYQGQFTNGMRHGHGVRQSVPYGMAVVVRSPLR
TSLSSLRSEHSNGTVAPDSPASPASDGPALPSPAIPRGGFALSLLANAEAAARAPKGGGLFQRGALLGKLRRAESRTSVG
SQRSRVSFLKSDLSSGASDAASTASLGEAAEGADEAAPFEADIDATTTETYMGEWKNDKRSGFGVSERSSGLRYEGEWLD
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:17509612   PMID:22389502   PMID:25741868  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000023409 CLINVAR
  RCV001256951 CLINVAR
  RCV001781303 CLINVAR
  RCV002326683 CLINVAR
dbSNP (RS) rs387906897 CLINVAR
MedGen C3151264 CLINVAR
  C3495498 CLINVAR
  CN230736 CLINVAR
  CN517202 CLINVAR
NCBI Gene JPH2 CLINVAR
OMIM 192600 CLINVAR
  605267 CLINVAR
  613873 CLINVAR
OMIM Allele 605267.0002 CLINVAR