Transcript #00018880 (NM_000193.2, SHH gene)

Transcript name sonic hedgehog
Gene name SHH (sonic hedgehog)
Chromosome 7
Transcript - NCBI ID NM_000193.2
Transcript - Ensembl ID -
Protein - NCBI ID NP_000184.1
Protein - Ensembl ID -
Protein - Uniprot ID -
Remarks -


Variants

86 entries on 1 page. Showing entries 1 - 86.
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Affects function     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

Type/DNA     
?/. - c.? r.(?) p.(Val366Ala) -
-/. - c.-125G>A r.(=) p.(=) -
-/. - c.-125G>A r.(=) p.(=) -
+/. _1 - r.? p.? -
+/. _1 - r.? p.? -
+/. _1 - r.? p.? -
+/. _1 - r.? p.? -
+/. _1 - r.? p.? -
+/. _1 - r.? p.? -
+/. - - r.? p.? -
+/. _1 - r.? p.? -
+/. _1 - r.? p.? -
+/. _1 - r.? p.? -
+/. _1 - r.? p.? -
+/. _1 - r.? p.? -
+/. _1 - r.? p.? -
+/. _1 - r.? p.? -
+/. _1 - r.? p.? -
+/. _1 - r.? p.? -
+/. _1 - r.? p.? -
+/. _1 - r.? p.? -
+/. _1 - r.? p.? -
+/. _1 - r.? p.? -
+/. _1 - r.? p.? -
+/. _1 - r.? p.? -
+/. _1 - r.? p.? -
+/. _1 - r.? p.? -
+/. _1 - r.? p.? -
+/. _1 - r.? p.? -
+/. _1 - r.? p.? -
+/+ 1 c.11_14dup r.(?) p.(Arg6Glyfs*59) -
+/+ 1 c.17G>C r.(?) p.(Arg6Thr) -
+/+ 1 c.38_45del r.(?) p.(Val13Alafs*48) deletion, small
-?/. - c.44C>G r.(?) p.(Ser15Trp) -
+/. - c.77C>T r.(?) p.(Pro26Leu) -
+/. - c.148_166del r.(?) p.(Asn50Ter) -
?/. - c.183G>T r.(?) p.(Arg61Ser) -
-?/. - c.213G>A r.(?) p.(Glu71=) -
+/. - c.229dup r.(?) p.(Thr77AsnfsTer11) -
-/. - c.300+17G>A r.(=) p.(=) -
-/. - c.301-17T>A r.(=) p.(=) -
+/. - c.304T>C r.(?) p.(Cys102Arg) -
+?/. 2 c.349_350dup r.(349_350dup) p.Trp117Cysfs*5 duplication, small
+/. - c.415_416del r.(?) p.(Leu139AlafsTer13) -
+?/. - c.430C>G r.(?) p.(Arg144Gly) -
+?/. - c.437T>G r.(?) p.(Val146Gly) -
+?/. - c.485C>T r.(?) p.(Ala162Val) -
?/. - c.487C>T r.(?) p.(Arg163Cys) -
?/. - c.542T>C r.(?) p.(Ile181Thr) -
?/. - c.551C>T r.(?) p.(Ser184Leu) -
-/. - c.570G>A r.(?) p.(Ser190=) -
-/. - c.570G>A r.(?) p.(Ser190=) -
-/. - c.630C>T r.(?) p.(Gly210=) -
+/. - c.676G>A r.(?) p.(Ala226Thr) -
+?/. - c.682G>A r.(?) p.(Asp228Asn) -
+/. - c.708C>A r.(?) p.(Ser236Arg) -
-/. - c.828G>T r.(?) p.(Pro276=) -
-?/. - c.840G>A r.(?) p.(Ser280=) -
-?/. - c.869G>A r.(?) p.(Gly290Asp) -
?/. - c.869G>A r.(?) p.(Gly290Asp) -
-?/. - c.869G>A r.(?) p.(Gly290Asp) -
-?/. - c.869G>A r.(?) p.(Gly290Asp) -
-/. - c.869G>A r.(?) p.(Gly290Asp) -
-?/. - c.869G>A r.(?) p.(Gly290Asp) -
-?/. - c.876G>A r.(?) p.(Gly292=) -
-?/. - c.879G>A r.(?) p.(Pro293=) -
-?/. - c.897G>C r.(?) p.(Leu299=) -
+?/. - c.900del r.(?) p.(Pro301Leufs*35) -
+/. - c.937C>T r.(?) p.(Gln313Ter) -
?/. - c.1023C>T r.(?) p.(Ala341=) -
+/. - c.1037C>T r.(?) p.(Ala346Val) -
+?/. - c.1055G>T r.(?) p.(Gly352Val) -
+/. - c.1071C>A r.(?) p.(Asn357Lys) -
-?/. - c.1082C>T r.(?) p.(Ala361Val) -
?/. - c.1100T>A r.(?) p.(Ile367Asn) -
+?/. - c.1145T>C r.(?) p.(Leu382Pro) -
-?/. - c.1178C>G r.(?) p.(Ala393Gly) -
-?/. - c.1181G>A r.(?) p.(Arg394His) -
+/. - c.1185_1188del r.(?) p.(Asp396AlafsTer17) -
+?/. - c.1302G>A r.(?) p.(Trp434*) -
?/. - c.*2692C>G r.(=) p.(=) -
-?/. - c.*2721C>T r.(=) p.(=) -
-?/. - c.*2721C>T r.(=) p.(=) -
-?/. - c.*2759G>A r.(=) p.(=) -
?/. - c.*2796T>G r.(=) p.(=) -
?/. - c.*2824C>A r.(=) p.(=) -
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