RGD:12837990 Rat Genome Database

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Variant: RGD:12837990 -  Homo sapiens

RGD ID: 12837990
RS ID: rs143079588
ClinVar ID: CV378695
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: ANOS1  
Reference Nucleotide: T
Variant Nucleotide: C
Position
Assembly Chr Position
GRCh37 X 8,565,153
GRCh38 X 8,597,112
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NC_000023.11:g.8597112T>C
NC_000023.10:g.8565153T>C
NM_000216.2:c.463A>G
NP_000207.2:p.Asn155Asp
More... 		09/07/2022 missense variant benign|likely benign AllHighlyPenetrant; DYSPLASIA OLFACTOGENITALIS OF DE MORSIER; HYPOGONADOTROPIC HYPOGONADISM 1 WITH ANOSMIA; Hypogonadotropic hypogonadism 1 with or without anosmia (Kallmann syndrome 1); HYPOGONADOTROPIC HYPOGONADISM AND ANOSMIA; Kallmann syndrome 1; Kallmann syndrome, type 1, X-linked; Kallmann syndrome, X-linked
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:ANOS1
Accession:NM_000216
Location:EXON
Amino Acid Prediction: N to D (nonsynonymous)
Amino Acid Position: 155
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MVPGVPGAVLTLCLWLAASSGCLAAGPGAAAARRLDESLSAGSVQRARCASRCLSLQITRISAFFQHFQNNGSLVWCQNH
KQCSKCLEPCKESGDLRKHQCQSFCEPLFPKKSYECLTSCEFLKYILLVKQGDCPAPEKASGFAAACVESCEVDDECSGV
KKCCSNGCGHTCQVPKTLYKGVPLKPRKELRFTELQSGQLEVKWSSKFNISIEPVIYVVQRRWNYGIHPSEDDATHWQTV
AQTTDERVQLTDIRPSRWYQFRVAAVNVHGTRGFTAPSKHFRSSKDPSAPPAPANLRLANSTVNSDGSVTVTIVWDLPEE
PDIPVHHYKVFWSWMVSSKSLVPTKKKRRKTTDGFQNSVILEKLQPDCDYVVELQAITYWGQTRLKSAKVSLHFTSTHAT
NNKEQLVKTRKGGIQTQLPFQRRRPTRPLEVGAPFYQDGQLQVKVYWKKTEDPTVNRYHVRWFPEACAHNRTTGSEASSG
MTHENYIILQDLSFSCKYKVTVQPIRPKSHSKAEAVFFTTPPCSALKGKSHKPVGCLGEAGHVLSKVLAKPENLSASFIV
QDVNITGHFSWKMAKANLYQPMTGFQVTWAEVTTESRQNSLPNSIISQSQILPSDHYVLTVPNLRPSTLYRLEVQVLTPG
GEGPATIKTFRTPELPPSSAHRSHLKHRHPHHYKPSPERY*

Gene Symbol:ANOS1
Accession:XM_005274501
Location:EXON
Amino Acid Prediction: N to D (nonsynonymous)
Amino Acid Position: 155
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MVPGVPGAVLTLCLWLAASSGCLAAGPGAAAARRLDESLSAGSVQRARCASRCLSLQITRISAFFQHFQNNGSLVWCQNH
KQCSKCLEPCKESGDLRKHQCQSFCEPLFPKKSYECLTSCEFLKYILLVKQGDCPAPEKASGFAAACVESCEVDDECSGV
KKCCSNGCGHTCQVPKTLYKGVPLKPRKELRFTELQSGQLEVKWSSKFNISIEPVIYVVQRRWNYGIHPSEDDATHWQTV
AQTTDERVQLTDIRPSRWYQFRVAAVNVHGTRGFTAPSKHFRSSKDPSAPPAPANLRLANSTVNSDGSVTVTIVWDLPEE
PDIPVHHYKVFWSWMVSSKSLVPTKKKRRKTTDGFQNSVILEKLQPDCDYVVELQAITYWGQTRLKSAKVSLHFTSTHAT
NNNRTTGNSGSRNDQHGVGE*
Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000426145 CLINVAR
  RCV002522521 CLINVAR
dbSNP (RS) rs143079588 CLINVAR
MedGen C1563719 CLINVAR
  CN169374 CLINVAR
NCBI Gene ANOS1 CLINVAR
OMIM 300836 CLINVAR
  308700 CLINVAR