RGD:12848625 Rat Genome Database

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Variant: RGD:12848625 -  Homo sapiens

RGD ID: 12848625
RS ID: rs1057520210
ClinVar ID: CV380294
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: ANOS1  
Reference Nucleotide: -
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 X 8,700,044
GRCh38 X 8,732,003
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Prevalence Trait Synonyms
NG_007088.1:g.5183_5184insA
NC_000023.11:g.8732003_8732004insT
NC_000023.10:g.8700044_8700045insT
NM_000216.4:c.33_34insA
More... 		07/09/2015 frameshift variant pathogenic 1-9 / 100 000 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: L to H (nonsynonymous)
Amino Acid Position: 12
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MVPGVPGAVLTHCLWLAASSGCLAAGPGAAAARRLDESLSAGSVQRARCASRCLSLQITRISAFFQHFQNNGSLVWCQNH
KQCSKCLEPCKESGDLRKHQCQSFCEPLFPKKSYECLTSCEFLKYILLVKQGDCPAPEKASGFAAACVESCEVDNECSGV
KKCCSNGCGHTCQVPKTLYKGVPLKPRKELRFTELQSGQLEVKWSSKFNISIEPVIYVVQRRWNYGIHPSEDDATHWQTV
AQTTDERVQLTDIRPSRWYQFRVAAVNVHGTRGFTAPSKHFRSSKDPSAPPAPANLRLANSTVNSDGSVTVTIVWDLPEE
PDIPVHHYKVFWSWMVSSKSLVPTKKKRRKTTDGFQNSVILEKLQPDCDYVVELQAITYWGQTRLKSAKVSLHFTSTHAT
NNKEQLVKTRKGGIQTQLPFQRRRPTRPLEVGAPFYQDGQLQVKVYWKKTEDPTVNRYHVRWFPEACAHNRTTGSEASSG
MTHENYIILQDLSFSCKYKVTVQPIRPKSHSKAEAVFFTTPPCSALKGKSHKPVGCLGEAGHVLSKVLAKPENLSASFIV
QDVNITGHFSWKMAKANLYQPMTGFQVTWAEVTTESRQNSLPNSIISQSQILPSDHYVLTVPNLRPSTLYRLEVQVLTPG
GEGPATIKTFRTPELPPSSAHRSHLKHRHPHHYKPSPERY*

Gene Symbol:ANOS1
Accession:XM_005274501
Location:EXON
Amino Acid Prediction: L to H (nonsynonymous)
Amino Acid Position: 12
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MVPGVPGAVLTHCLWLAASSGCLAAGPGAAAARRLDESLSAGSVQRARCASRCLSLQITRISAFFQHFQNNGSLVWCQNH
KQCSKCLEPCKESGDLRKHQCQSFCEPLFPKKSYECLTSCEFLKYILLVKQGDCPAPEKASGFAAACVESCEVDNECSGV
KKCCSNGCGHTCQVPKTLYKGVPLKPRKELRFTELQSGQLEVKWSSKFNISIEPVIYVVQRRWNYGIHPSEDDATHWQTV
AQTTDERVQLTDIRPSRWYQFRVAAVNVHGTRGFTAPSKHFRSSKDPSAPPAPANLRLANSTVNSDGSVTVTIVWDLPEE
PDIPVHHYKVFWSWMVSSKSLVPTKKKRRKTTDGFQNSVILEKLQPDCDYVVELQAITYWGQTRLKSAKVSLHFTSTHAT
NNNRTTGNSGSRNDQHGVGE*
Variant Samples
Additional References at PubMed
PMID:25741868  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000445556 CLINVAR
dbSNP (RS) rs1057520210 CLINVAR
MedGen C1563719 CLINVAR
NCBI Gene ANOS1 CLINVAR
OMIM 300836 CLINVAR
  308700 CLINVAR