RGD:8601164 Rat Genome Database

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Variant: RGD:8601164 -  Homo sapiens

RGD ID: 8601164
ClinVar ID: CV34286
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: CRLF1  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 19 18,709,401
GRCh38 19 18,598,591
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Age of Onset Prevalence Trait Synonyms
NG_013370.1:g.13260C>T
NC_000019.10:g.18598591G>A
NC_000019.9:g.18709401G>A
NP_004741.1:p.Gln180Ter
More... 		03/03/2011 nonsense|stop-gain pathogenic adult|childhood <1 / 1 000 000 Crisponi syndrome; CRISPONI/COLD-INDUCED SWEATING SYNDROME 1; Muscle contractions, tetanoform, with characteristic face, camptodactyly, hyperthermia, and sudden death

Variant Details
Variant Transcripts
Gene Symbol:CRLF1
Accession:NM_004750
Location:EXON
Amino Acid Prediction: Q to * (nonsynonymous)
Amino Acid Position: 180
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MPAGRRGPAAQSARRPPPLLPLLLLLCVLGAPRAGSGAHTAVISPQDPTLLIGSSLLATCSVHGDPPGATAEGLYWTLNG
RRLPPELSRVLNASTLALALANLNGSRQRSGDNLVCHARDGSILAGSCLYVGLPPEKPVNISCWSKNMKDLTCRWTPGAH
GETFLHTNYSLKYKLRWYG*DNTCEEYHTVGPHSCHIPKDLALFTPYEIWVEATNRLGSARSDVLTLDILDVVTTDPPPD
VHVSRVGGLEDQLSVRWVSPPALKDFLFQAKYQIRYRVEDSVDWKVVDDVSNQTSCRLAGLKPGTVYFVQVRCNPFGIYG
SKKAGIWSEWSHPTAASTPRSERPGPGGGACEPRGGEPSSGPVRRELKQFLGWLKKHAYCSNLSFRLYDQWRAWMQKSHK
TRNQDEGILPSGRRGTARGPAR*
Variant Samples