RGD:13530067 Rat Genome Database

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Variant: RGD:13530067 -  Homo sapiens

RGD ID: 13530067
RS ID: rs1556220029
ClinVar ID: CV513704
Genic Status: GENIC
Type: insertion (SO:0000667) 
Associated Genes: STEEP1  
Reference Nucleotide: -
Variant Nucleotide: TA
Position
Assembly Chr Position
GRCh37 X 118,694,313
GRCh38 X 119,560,350
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NP_001164040.1:p.Asp5Ter
NC_000023.10:g.118694313_118694314insTA
NC_000023.11:g.119560350_119560351insTA
NG_016378.1:g.10084_10085insTA
More... 		04/26/2018 frameshift variant|nonsense pathogenic INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED 107; MENTAL RETARDATION, X-LINKED 107
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:STEEP1
Accession:NM_022101
Location:EXON
Amino Acid Prediction: D to V (nonsynonymous)
Amino Acid Position: 54
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MPKVVSRSVVCSDTRDREEYDDGEKPLHVYYCLCGQMVLVLDCQLEKLPMRPRVRSRVIDAAKHAHKFCNTEDEETMYLR
RPEGIERQYRKKCAKCGLPLFYQSQPKNAPVTFIVDGAVVKFGQGFGKTNIYTQKQEPPKKVMMTKRTKDMGKFSSVTVS
TIDEEEEEIEAREVADSYAQNAKVIEKQLERKGMSKRRLQELAELEAKKAKMKGTLIDNQFK*

Gene Symbol:STEEP1
Accession:NM_001170570
Location:EXON
Amino Acid Prediction: D to V (nonsynonymous)
Amino Acid Position: 54
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MPKVVSRSVVCSDTRDREEYDDGEKPLHVYYCLCGQMVLVLDCQLEKLPMRPRVRSRVIDAAKHAHKFCNTEDEETMYLR
RCGLPLFYQSQPKNAPVTFIVDGAVVKFGQGFGKTNIYTQKQEPPKKVMMTKRTKDMGKFSSVTVSTIDEEEEEIEAREV
ADSYAQNAKVIEKQLERKGMSKRRLQELAELEAKKAKMKGTLIDNQFK*

Gene Symbol:STEEP1
Accession:NM_001170569
Location:EXON
Amino Acid Prediction: D to V (nonsynonymous)
Amino Acid Position: 5
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MRPRVRSRVIDAAKHAHKFCNTEDEETMYLRRPEGIERQYRKKCAKCGLPLFYQSQPKNAPVTFIVDGAVVKFGQGFGKT
NIYTQKQEPPKKVMMTKRTKDMGKFSSVTVSTIDEEEEEIEAREVADSYAQNAKVIEKQLERKGMSKRRLQELAELEAKK
AKMKGTLIDNQFK*
Variant Samples
Additional References at PubMed
PMID:29374277  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000626311 CLINVAR
dbSNP (RS) rs1556220029 CLINVAR
MedGen C4692652 CLINVAR
NCBI Gene CXorf56 CLINVAR
OMIM 301012 CLINVAR
  301013 CLINVAR
OMIM Allele 301012.0001 CLINVAR