Transcript #00001024

Transcript name colony stimulating factor 1 receptor
Gene name CSF1R (colony stimulating factor 1 receptor)
Chromosome 5
Transcript - NCBI ID NM_005211.3
Transcript - Ensembl ID -
Protein - NCBI ID NP_005202.2
Protein - Ensembl ID -
Protein - Uniprot ID -
Remarks -


Variants

111 entries on 2 pages. Showing entries 1 - 100.
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Affects function     

Exon     

AscendingDNA change (cDNA)     

ClassClinical     

RNA change     

Protein     
?/. - c.-4746T>C VUS r.(?) p.(=)
?/. - c.-4736G>A VUS r.(?) p.(=)
?/. - c.-4715G>A VUS r.(?) p.(=)
-?/. - c.-4678A>T likely benign r.(?) p.(=)
-?/. - c.-4678A>T likely benign r.(?) p.(=)
-?/. - c.-4642C>T likely benign r.(?) p.(=)
-?/. - c.-4600G>T likely benign r.(?) p.(=)
-/. - c.-4585C>T benign r.(?) p.(=)
-/. - c.-4585C>T benign r.(?) p.(=)
-/. - c.-4585C>T benign r.(?) p.(=)
-?/. - c.-4573C>T likely benign r.(?) p.(=)
-/. - c.-4534A>G benign r.(?) p.(=)
-/. - c.-4534A>G benign r.(?) p.(=)
-/. - c.-4534A>G benign r.(?) p.(=)
-/. - c.-4534A>G benign r.(?) p.(=)
-?/. - c.-2839C>T likely benign r.(?) p.(=)
-?/. - c.-2758G>A likely benign r.(?) p.(=)
-/. - c.-2752A>G benign r.(?) p.(=)
-/. - c.-2752A>G benign r.(?) p.(=)
-/. - c.-2752A>G benign r.(?) p.(=)
-/. - c.-2752A>G benign r.(?) p.(=)
-?/. - c.-2717C>T likely benign r.(?) p.(=)
-?/. - c.-2717C>T likely benign r.(?) p.(=)
?/. - c.-2712C>T VUS r.(?) p.(=)
-?/. - c.49+13C>T likely benign r.(=) p.(=)
?/. - c.49+16G>T VUS r.(=) p.(=)
-?/. - c.49+16G>T likely benign r.(=) p.(=)
-/. - c.84T>C benign r.(?) p.(=)
-/. - c.84T>C benign r.(?) p.(=)
-?/. - c.95T>G likely benign r.(?) p.(Val32Gly)
-?/. - c.95T>G likely benign r.(?) p.(Val32Gly)
-?/. - c.110C>T likely benign r.(?) p.(Thr37Met)
-?/. - c.220G>A likely benign r.(?) p.(Ala74Thr)
-?/. - c.237G>A likely benign r.(?) p.(=)
-?/. - c.268C>A likely benign r.(?) p.(Pro90Thr)
-?/. - c.268C>A likely benign r.(?) p.(Pro90Thr)
-?/. - c.282C>T likely benign r.(?) p.(=)
-?/. - c.282C>T likely benign r.(?) p.(=)
-/. - c.294C>T benign r.(?) p.(=)
-?/. - c.294C>T likely benign r.(?) p.(=)
?/. - c.307+5G>A VUS r.spl? p.?
-?/. - c.316C>T likely benign r.(?) p.(Arg106Trp)
-?/. - c.316C>T likely benign r.(?) p.(Arg106Trp)
-?/. - c.368C>G likely benign r.(?) p.(Ala123Gly)
-?/. - c.375G>A likely benign r.(?) p.(=)
?/. - c.593-317A>G - - p.(=)
+?/. - c.593-8G>A likely pathogenic r.(=) p.(=)
?/. - c.704T>G VUS r.(?) p.(Val235Gly)
-?/. - c.721A>G likely benign r.(?) p.(Asn241Asp)
-?/. - c.721A>G likely benign r.(?) p.(Asn241Asp)
-/. - c.726C>T benign r.(?) p.(=)
-/. - c.726C>T benign r.(?) p.(=)
-?/. - c.733G>T likely benign r.(?) p.(Ala245Ser)
-?/. - c.764A>T likely benign r.(?) p.(Asn255Ile)
?/. - c.802G>A VUS r.(?) p.(Val268Ile)
-?/. - c.819C>T likely benign r.(?) p.(=)
-/. - c.835G>A benign r.(?) p.(Val279Met)
?/. - c.881G>A VUS r.(?) p.(Arg294Gln)
-?/. - c.881G>A likely benign r.(?) p.(Arg294Gln)
-/. - c.1085A>G benign r.(?) p.(His362Arg)
-/. - c.1085A>G benign r.(?) p.(His362Arg)
-?/. - c.1149C>T likely benign r.(?) p.(=)
-?/. - c.1179G>A likely benign r.(?) p.(=)
-?/. - c.1179G>A likely benign r.(?) p.(=)
-?/. - c.1198+16G>T likely benign r.(=) p.(=)
-/. - c.1237G>A benign r.(?) p.(Gly413Ser)
-?/. - c.1284C>T likely benign r.(?) p.(=)
-?/. - c.1401G>A likely benign r.(?) p.(=)
-?/. - c.1404G>A likely benign r.(?) p.(=)
?/. - c.1466del VUS r.(?) p.(Asn489Thrfs*123)
?/. - c.1479T>G VUS r.(?) p.(Ser493Arg)
-?/. - c.1510+16C>T likely benign r.(=) p.(=)
-?/. - c.1517A>G likely benign r.(?) p.(His506Arg)
-?/. - c.1594C>T likely benign r.(?) p.(=)
-?/. - c.1626+3G>A likely benign r.spl? p.?
-/. - c.1626+7C>T benign r.(=) p.(=)
-/. - c.1626+7C>T benign r.(=) p.(=)
-?/. - c.1626+12C>T likely benign r.(=) p.(=)
-?/. - c.1626+13G>A likely benign r.(=) p.(=)
+/. - c.1649G>A pathogenic r.(?) p.(Trp550*)
-?/. - c.1692C>T likely benign r.(?) p.(=)
?/. - c.1735C>T VUS r.(?) p.(Arg579Trp)
?/. - c.1913G>C VUS r.(?) p.(Ser638Thr)
?/. - c.1913G>C VUS r.(?) p.(Ser638Thr)
?/. - c.2113G>A VUS r.(?) p.(Glu705Lys)
-?/. - c.2132+5C>T likely benign r.spl? p.?
-?/. - c.2190C>T likely benign r.(?) p.(=)
-?/. - c.2222-18C>T likely benign r.(=) p.(=)
-?/. - c.2222-18C>T likely benign r.(=) p.(=)
-?/. - c.2222-3T>C likely benign r.spl? p.?
-?/. - c.2222-3T>C likely benign r.spl? p.?
-?/. - c.2239G>A likely benign r.(?) p.(Gly747Arg)
-?/. - c.2239G>A likely benign r.(?) p.(Gly747Arg)
+/. - c.2330G>A pathogenic r.(?) p.(Arg777Gln)
+/. - c.2381T>C pathogenic r.(?) p.(Ile794Thr)
-?/. - c.2499G>A likely benign r.(?) p.(=)
+?/. - c.2512G>T likely pathogenic r.(?) p.(Val838Phe)
-/. - c.2535C>G benign r.(?) p.(=)
-/. - c.2535C>G benign r.(?) p.(=)
-?/. - c.2554+3G>A likely benign r.spl? p.?
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