RGD:12841181 Rat Genome Database

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Pathways
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Variant: RGD:12841181 -  Homo sapiens

RGD ID: 12841181
RS ID: rs148736113
ClinVar ID: CV378676
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: ANOS1  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 X 8,522,064
GRCh38 X 8,554,023
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.8554023G>A
NC_000023.10:g.8522064G>A
NM_000216.2:c.1283C>T
NP_000207.2:p.Pro428Leu
More... 		11/06/2018 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: P to L (nonsynonymous)
Amino Acid Position: 428
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MVPGVPGAVLTLCLWLAASSGCLAAGPGAAAARRLDESLSAGSVQRARCASRCLSLQITRISAFFQHFQNNGSLVWCQNH
KQCSKCLEPCKESGDLRKHQCQSFCEPLFPKKSYECLTSCEFLKYILLVKQGDCPAPEKASGFAAACVESCEVDNECSGV
KKCCSNGCGHTCQVPKTLYKGVPLKPRKELRFTELQSGQLEVKWSSKFNISIEPVIYVVQRRWNYGIHPSEDDATHWQTV
AQTTDERVQLTDIRPSRWYQFRVAAVNVHGTRGFTAPSKHFRSSKDPSAPPAPANLRLANSTVNSDGSVTVTIVWDLPEE
PDIPVHHYKVFWSWMVSSKSLVPTKKKRRKTTDGFQNSVILEKLQPDCDYVVELQAITYWGQTRLKSAKVSLHFTSTHAT
NNKEQLVKTRKGGIQTQLPFQRRRPTRLLEVGAPFYQDGQLQVKVYWKKTEDPTVNRYHVRWFPEACAHNRTTGSEASSG
MTHENYIILQDLSFSCKYKVTVQPIRPKSHSKAEAVFFTTPPCSALKGKSHKPVGCLGEAGHVLSKVLAKPENLSASFIV
QDVNITGHFSWKMAKANLYQPMTGFQVTWAEVTTESRQNSLPNSIISQSQILPSDHYVLTVPNLRPSTLYRLEVQVLTPG
GEGPATIKTFRTPELPPSSAHRSHLKHRHPHHYKPSPERY*

Gene Symbol:ANOS1
Accession:XM_005274501
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000432110 CLINVAR
  RCV000865159 CLINVAR
dbSNP (RS) rs148736113 CLINVAR
MedGen C1563719 CLINVAR
  CN169374 CLINVAR
NCBI Gene ANOS1 CLINVAR
OMIM 300836 CLINVAR
  308700 CLINVAR