RGD:152145209 Rat Genome Database

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Variant: RGD:152145209 -  Homo sapiens

RGD ID: 152145209
RS ID: rs755924784
ClinVar ID: CV1576676
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: KISS1R  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 19 917,520
GRCh38 19 917,520
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_032551.5:c.18G>A
NG_008277.1:g.5179G>A
NC_000019.10:g.917520G>A
NC_000019.9:g.917520G>A
More... 		01/14/2022 synonymous variant benign|likely benign HYPOGONADOTROPIC HYPOGONADISM 8 WITH ANOSMIA, SUSCEPTIBILITY TO; Hypogonadotropic hypogonadism 8 with or without anosmia; none provided; Precocious puberty, central, 1; Precocious puberty, gonadotropin-dependent
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:KISS1R
Accession:XM_047439545
Location:EXON
Amino Acid Prediction: T to T (synonymous)
Amino Acid Position: 6
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MHTVATSGPNASWGAPANASGCPGCGANASDGPVPSPRAVDAWLVPLFFAALMLLGLVGNSLVIYVICRHKPMRTVTNFY
IANLAATDVTFLLCCVPFTALLYPLPGWVLGDFMCKFVNYIQQVSVQATCATLTAMSVDRWYVTVFPLRALHRRTPRLAL
AVSLSIWVGSAAVSAPVLALHRLSPGPRAYCSEAFPSRALERAFALYNLLALYLLPLLATCACYAAMLRHLGRVAVRPAP
ADSALQVRGVGGRTARLGGRGGTVVGGAGGGICAGRDSPRGPGGAVRGDELSRAPAFRLTTFTAPPQGQVLAERAGAVRA
KVSRLVAAVVLLFAACWGPIQLFLVLQALGPAGSWHPRSYAAYALKTWAHCMSYSNSALNPLLYAFLGSHFRQAFRRVCP
CAPRRPRRPRRPGPSDPAAPHAELLRLGSHPAPARAQKPGSSGLAARGLCVLGEDNAPL*

Gene Symbol:KISS1R
Accession:NM_032551
Location:EXON
Amino Acid Prediction: T to T (synonymous)
Amino Acid Position: 6
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MHTVATSGPNASWGAPANASGCPGCGANASDGPVPSPRAVDAWLVPLFFAALMLLGLVGNSLVIYVICRHKPMRTVTNFY
IANLAATDVTFLLCCVPFTALLYPLPGWVLGDFMCKFVNYIQQVSVQATCATLTAMSVDRWYVTVFPLRALHRRTPRLAL
AVSLSIWVGSAAVSAPVLALHRLSPGPRAYCSEAFPSRALERAFALYNLLALYLLPLLATCACYAAMLRHLGRVAVRPAP
ADSALQGQVLAERAGAVRAKVSRLVAAVVLLFAACWGPIQLFLVLQALGPAGSWHPRSYAAYALKTWAHCMSYSNSALNP
LLYAFLGSHFRQAFRRVCPCAPRRPRRPRRPGPSDPAAPHAELLRLGSHPAPARAQKPGSSGLAARGLCVLGEDNAPL*
Variant Samples
Additional References at PubMed
PMID:25741868   PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV002101356 CLINVAR
  RCV002499953 CLINVAR
  RCV003933408 CLINVAR
dbSNP (RS) rs755924784 CLINVAR
MedGen C3661900 CLINVAR
  C3805879 CLINVAR
NCBI Gene KISS1R CLINVAR
OMIM 176400 CLINVAR
  604161 CLINVAR
  614837 CLINVAR