RGD:405203241 Rat Genome Database

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Variant: RGD:405203241 -  Homo sapiens

RGD ID: 405203241
ClinVar ID: CV2861537
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: CRLF1  LOC127890888  
Reference Nucleotide: G
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 19 18,717,458
GRCh38 19 18,606,648
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NC_000019.9:g.18717458G>T
NM_004750.5:c.9C>A
NG_013370.1:g.5203C>A
NG_140792.1:g.828G>T
More... 		07/03/2023 synonymous variant likely benign none provided

Variant Details
Variant Transcripts
Gene Symbol:CRLF1
Accession:NM_004750
Location:EXON
Amino Acid Prediction: A to A (synonymous)
Amino Acid Position: 3
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MPAGRRGPAAQSARRPPPLLPLLLLLCVLGAPRAGSGAHTAVISPQDPTLLIGSSLLATCSVHGDPPGATAEGLYWTLNG
RRLPPELSRVLNASTLALALANLNGSRQRSGDNLVCHARDGSILAGSCLYVGLPPEKPVNISCWSKNMKDLTCRWTPGAH
GETFLHTNYSLKYKLRWYGQDNTCEEYHTVGPHSCHIPKDLALFTPYEIWVEATNRLGSARSDVLTLDILDVVTTDPPPD
VHVSRVGGLEDQLSVRWVSPPALKDFLFQAKYQIRYRVEDSVDWKVVDDVSNQTSCRLAGLKPGTVYFVQVRCNPFGIYG
SKKAGIWSEWSHPTAASTPRSERPGPGGGACEPRGGEPSSGPVRRELKQFLGWLKKHAYCSNLSFRLYDQWRAWMQKSHK
TRNQDEGILPSGRRGTARGPAR*
Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV003551535 CLINVAR
MedGen C3661900 CLINVAR
NCBI Gene CRLF1 CLINVAR
OMIM 604237 CLINVAR