RGD:8596887 Rat Genome Database

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Variant: RGD:8596887 -  Homo sapiens

RGD ID: 8596887
ClinVar ID: CV20744
Genic Status: GENIC
Type: deletion (SO:0000159) 
Associated Genes: CRLF1  LOC112543470  
Reference Nucleotide: AC
Variant Nucleotide: --
Position
Assembly Chr Position
GRCh37 19 18,707,712 - 18,707,714
GRCh38 19 18,596,902 - 18,596,904
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
NM_004750.4:c.844_845delGT
NG_013370.1:g.14948_14949delGT
NC_000019.10:g.18596902_18596903delAC
NC_000019.9:g.18707712_18707713delAC
More... 		01/24/2013 frameshift variant pathogenic childhood <1 / 1 000 000 SOHAR-CRISPONI SYNDROME

Variant Details
Variant Transcripts
Gene Symbol:CRLF1
Accession:NM_004750
Location:EXON
Amino Acid Prediction: V to G (nonsynonymous)
Amino Acid Position: 282
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MPAGRRGPAAQSARRPPPLLPLLLLLCVLGAPRAGSGAHTAVISPQDPTLLIGSSLLATCSVHGDPPGATAEGLYWTLNG
RRLPPELSRVLNASTLALALANLNGSRQRSGDNLVCHARDGSILAGSCLYVGLPPEKPVNISCWSKNMKDLTCRWTPGAH
GETFLHTNYSLKYKLRWYGQDNTCEEYHTVGPHSCHIPKDLALFTPYEIWVEATNRLGSARSDVLTLDILDVVTTDPPPD
VHVSRVGGLEDQLSVRWVSPPALKDFLFQAKYQIRYRVEDSGDWKVVDDVSNQTSCRLAGLKPGTVYFVQVRCNPFGIYG
SKKAGIWSEWSHPTAASTPRSERPGPGGGACEPRGGEPSSGPVRRELKQFLGWLKKHAYCSNLSFRLYDQWRAWMQKSHK
TRNQDEGILPSGRRGTARGPAR*
Variant Samples