RGD:14397354 Rat Genome Database

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Variant: RGD:14397354 -  Homo sapiens

RGD ID: 14397354
RS ID: rs1569234937
ClinVar ID: CV613248
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: RPGR  
Reference Nucleotide: T
Variant Nucleotide: C
Position
Assembly Chr Position
GRCh37 X 38,144,839
GRCh38 X 38,285,586
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NG_009553.1:g.46950A>G
NC_000023.11:g.38285586T>C
NC_000023.10:g.38144839T>C
NM_001367246.1:c.1719+1508A>G
More... 		09/30/2018 intron variant uncertain significance none provided

Variant Details
Variant Transcripts
Gene Symbol:RPGR
Accession:NM_001034853
Location:EXON
Amino Acid Prediction: K to R (nonsynonymous)
Amino Acid Position: 1138
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MREPEELMPDSGAVFTFGKSKFAENNPGKFWFKNDVPVHLSCGDEHSAVVTGNNKLYMFGSNNWGQLGLGSKSAISKPTC
VKALKPEKVKLAACGRNHTLVSTEGGNVYATGGNNEGQLGLGDTEERNTFHVISFFTSEHKIKQLSAGSNTSAALTEDGR
LFMWGDNSEGQIGLKNVSNVCVPQQVTIGKPVSWISCGYYHSAFVTTDGELYVFGEPENGKLGLPNQLLGNHRTPQLVSE
IPEKVIQVACGGEHTVVLTENAVYTFGLGQFGQLGLGTFLFETSEPKVIENIRDQTISYISCGENHTALITDIGLMYTFG
DGRHGKLGLGLENFTNHFIPTLCSNFLRFIVKLVACGGCHMVVFAAPHRGVAKEIEFDEINDTCLSVATFLPYSSLTSGN
VLQRTLSARMRRRERERSPDSFSMRRTLPPIEGTLGLSACFLPNSVFPRCSERNLQESVLSEQDLMQPEEPDYLLDEMTK
EAEIDNSSTVESLGETTDILNMTHIMSLNSNEKSLKLSPVQKQKKQQTIGELTQDTALTENDDSDEYEEMSEMKEGKACK
QHVSQGIFMTQPATTIEAFSDEEVEIPEEKEGAEDSKGNGIEEQEVEANEENVKVHGGRKEKTEILSDDLTDKAEVSEGK
AKSVGEAEDGPEGRGDGTCEEGSSGAEHWQDEEREKGEKDKGRGEMERPGEGEKELAEKEEWKKRDGEEQEQKEREQGHQ
KERNQEMEEGGEEEHGEGEEEEGDREEEEEKEGEGKEEGEGEEVEGEREKEEGERKKEERAGKEEKGEEEGDQGEGEEEE
TEGRGEEKEEGGEVEGGEVEEGKGEREEEEEEGEGEEEEGEGEEEEGEGEEEEGEGKGEEEGEEGEGEEEGEEGEGEGEE
EEGEGEGEEEGEGEGEEEEGEGEGEEEGEGEGEEEEGEGKGEEEGEEGEGEGEEEEGEGEGEDGEGEGEEEEGEWEGEEE
EGEGEGEEEGEGEGEEGEGEGEEEEGEGEGEEEEGEEEGEEEGEGEEEGEGEGEEEEEGEVEGEVEGEEGEGEGEEEEGE
EEGEEREKEGEGEENRRNREEEEEEEGKYQETGEEENERQDGEEYKKVSKIKGSVKYGKHKTYQKKSVTNTQGNGKEQRS
KMPVQSKRLLKNGPSGSRKFWNNVLPHYLELK*

Gene Symbol:RPGR
Accession:NM_001367249
Location:INTRON

Gene Symbol:RPGR
Accession:XM_047442329
Location:INTRON

Gene Symbol:RPGR
Accession:XM_047442330
Location:INTRON

Gene Symbol:RPGR
Accession:NM_000328
Location:INTRON

Gene Symbol:RPGR
Accession:NM_001367248
Location:INTRON

Gene Symbol:RPGR
Accession:XM_047442331
Location:INTRON

Gene Symbol:RPGR
Accession:NM_001367245
Location:INTRON

Gene Symbol:RPGR
Accession:NM_001367247
Location:INTRON

Gene Symbol:RPGR
Accession:NM_001367251
Location:INTRON

Gene Symbol:RPGR
Accession:NM_001367250
Location:INTRON

Gene Symbol:RPGR
Accession:NM_001367246
Location:INTRON

Gene Symbol:RPGR
Accession:NR_159804
Location:INTRON;NON-CODING

Gene Symbol:RPGR
Accession:NR_159807
Location:INTRON;NON-CODING

Gene Symbol:RPGR
Accession:NR_159808
Location:INTRON;NON-CODING

Gene Symbol:RPGR
Accession:NR_159803
Location:INTRON;NON-CODING

Gene Symbol:RPGR
Accession:NR_159805
Location:INTRON;NON-CODING

Gene Symbol:RPGR
Accession:XR_007068198
Location:INTRON;NON-CODING

Gene Symbol:RPGR
Accession:NR_159806
Location:INTRON;NON-CODING

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV000762618 CLINVAR
dbSNP (RS) rs1569234937 CLINVAR
MedGen C3661900 CLINVAR
NCBI Gene RPGR CLINVAR
OMIM 312610 CLINVAR