RGD:401928614 Rat Genome Database

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Variant: RGD:401928614 -  Homo sapiens

RGD ID: 401928614
ClinVar ID: CV2811855
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: CRLF1  
Reference Nucleotide: G
Variant Nucleotide: C
Position
Assembly Chr Position
GRCh37 19 18,709,614
GRCh38 19 18,598,804
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.495C>G
NG_013370.1:g.13047C>G
NC_000019.10:g.18598804G>C
NC_000019.9:g.18709614G>C
More... 		10/01/2022 synonymous variant likely benign none provided; RECLASSIFIED - ADRA2C POLYMORPHISM; RECLASSIFIED - ADRB1 POLYMORPHISM

Variant Details
Variant Transcripts
Gene Symbol:CRLF1
Accession:NM_004750
Location:EXON
Amino Acid Prediction: L to L (synonymous)
Amino Acid Position: 165
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MPAGRRGPAAQSARRPPPLLPLLLLLCVLGAPRAGSGAHTAVISPQDPTLLIGSSLLATCSVHGDPPGATAEGLYWTLNG
RRLPPELSRVLNASTLALALANLNGSRQRSGDNLVCHARDGSILAGSCLYVGLPPEKPVNISCWSKNMKDLTCRWTPGAH
GETFLHTNYSLKYKLRWYGQDNTCEEYHTVGPHSCHIPKDLALFTPYEIWVEATNRLGSARSDVLTLDILDVVTTDPPPD
VHVSRVGGLEDQLSVRWVSPPALKDFLFQAKYQIRYRVEDSVDWKVVDDVSNQTSCRLAGLKPGTVYFVQVRCNPFGIYG
SKKAGIWSEWSHPTAASTPRSERPGPGGGACEPRGGEPSSGPVRRELKQFLGWLKKHAYCSNLSFRLYDQWRAWMQKSHK
TRNQDEGILPSGRRGTARGPAR*
Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV003406907 CLINVAR
MedGen C3661900 CLINVAR
NCBI Gene CRLF1 CLINVAR
OMIM 604237 CLINVAR