RGD:405255124 Rat Genome Database

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Variant: RGD:405255124 -  Homo sapiens

RGD ID: 405255124
ClinVar ID: CV3171920
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: CRLF1  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 19 18,707,484
GRCh38 19 18,596,674
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.972C>T
NG_013370.1:g.15177C>T
NG_057411.1:g.56G>A
NC_000019.10:g.18596674G>A
More... 		11/17/2023 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: 324
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 RCV003872043 CLINVAR
MedGen C3661900 CLINVAR
NCBI Gene CRLF1 CLINVAR
OMIM 604237 CLINVAR