rs146027258 Rat Genome Database

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Variant: rs146027258 -  Homo sapiens

RGD ID: 15182516
RS ID: rs146027258
ClinVar ID: CV716303
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: CRLF1  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 19 18,710,416
GRCh38 19 18,599,606
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_004750.5:c.356G>A
NG_013370.1:g.12245G>A
NC_000019.10:g.18599606C>T
NC_000019.9:g.18710416C>T
More... 		01/04/2024 missense variant benign|conflicting interpretations of pathogenicity none provided; RECLASSIFIED - ADRA2C POLYMORPHISM; RECLASSIFIED - ADRB1 POLYMORPHISM

Variant Details
Variant Transcripts
Gene Symbol:CRLF1
Accession:NM_004750
Location:EXON
Amino Acid Prediction: R to H (nonsynonymous)
Amino Acid Position: 119
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MPAGRRGPAAQSARRPPPLLPLLLLLCVLGAPRAGSGAHTAVISPQDPTLLIGSSLLATCSVHGDPPGATAEGLYWTLNG
RRLPPELSRVLNASTLALALANLNGSRQRSGDNLVCHAHDGSILAGSCLYVGLPPEKPVNISCWSKNMKDLTCRWTPGAH
GETFLHTNYSLKYKLRWYGQDNTCEEYHTVGPHSCHIPKDLALFTPYEIWVEATNRLGSARSDVLTLDILDVVTTDPPPD
VHVSRVGGLEDQLSVRWVSPPALKDFLFQAKYQIRYRVEDSVDWKVVDDVSNQTSCRLAGLKPGTVYFVQVRCNPFGIYG
SKKAGIWSEWSHPTAASTPRSERPGPGGGACEPRGGEPSSGPVRRELKQFLGWLKKHAYCSNLSFRLYDQWRAWMQKSHK
TRNQDEGILPSGRRGTARGPAR*
Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000974650 CLINVAR
dbSNP (RS) rs146027258 CLINVAR
MedGen C3661900 CLINVAR
NCBI Gene CRLF1 CLINVAR
OMIM 604237 CLINVAR