RGD:14696512 Rat Genome Database

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Variant: RGD:14696512 -  Homo sapiens

RGD ID: 14696512
RS ID: rs142455173
ClinVar ID: CV622125
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: ANOS1  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 X 8,503,775
GRCh38 X 8,535,734
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NG_007088.2:g.201453G>A
NC_000023.10:g.8503775C>T
NP_000207.2:p.Gly567Ser
NM_000216.4:c.1699G>A
More... 		08/09/2020 missense variant benign|uncertain significance 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; none provided
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:ANOS1
Accession:NM_000216
Location:EXON
Amino Acid Prediction: G to S (nonsynonymous)
Amino Acid Position: 567
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MVPGVPGAVLTLCLWLAASSGCLAAGPGAAAARRLDESLSAGSVQRARCASRCLSLQITRISAFFQHFQNNGSLVWCQNH
KQCSKCLEPCKESGDLRKHQCQSFCEPLFPKKSYECLTSCEFLKYILLVKQGDCPAPEKASGFAAACVESCEVDNECSGV
KKCCSNGCGHTCQVPKTLYKGVPLKPRKELRFTELQSGQLEVKWSSKFNISIEPVIYVVQRRWNYGIHPSEDDATHWQTV
AQTTDERVQLTDIRPSRWYQFRVAAVNVHGTRGFTAPSKHFRSSKDPSAPPAPANLRLANSTVNSDGSVTVTIVWDLPEE
PDIPVHHYKVFWSWMVSSKSLVPTKKKRRKTTDGFQNSVILEKLQPDCDYVVELQAITYWGQTRLKSAKVSLHFTSTHAT
NNKEQLVKTRKGGIQTQLPFQRRRPTRPLEVGAPFYQDGQLQVKVYWKKTEDPTVNRYHVRWFPEACAHNRTTGSEASSG
MTHENYIILQDLSFSCKYKVTVQPIRPKSHSKAEAVFFTTPPCSALKGKSHKPVGCLGEAGHVLSKVLAKPENLSASFIV
QDVNITSHFSWKMAKANLYQPMTGFQVTWAEVTTESRQNSLPNSIISQSQILPSDHYVLTVPNLRPSTLYRLEVQVLTPG
GEGPATIKTFRTPELPPSSAHRSHLKHRHPHHYKPSPERY*

Gene Symbol:ANOS1
Accession:XM_005274501
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:25741868   PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000782189 CLINVAR
  RCV001513698 CLINVAR
  RCV002249482 CLINVAR
dbSNP (RS) rs142455173 CLINVAR
MedGen C1563719 CLINVAR
  C3661900 CLINVAR
  CN169374 CLINVAR
NCBI Gene ANOS1 CLINVAR
OMIM 300836 CLINVAR
  308700 CLINVAR