Transcript #00000354 (NM_138737.3, HEPH gene)

Transcript name transcript variant 1
Gene name HEPH (hephaestin)
Chromosome X
Transcript - NCBI ID NM_138737.3
Transcript - Ensembl ID -
Protein - NCBI ID NP_620074.3
Protein - Ensembl ID -
Protein - Uniprot ID -
Exon/intron information Exon/intron information table: HTML, Txt
Remarks -


Variants

50 entries on 1 page. Showing entries 1 - 50.
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Affects function     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     
?/. 1 c.96C>A r.(?) p.(=)
?/. - c.305C>T r.(?) p.(Thr102Met)
?/. - c.329+157G>A r.(=) p.(=)
?/. - c.329+157G>A r.(=) p.(=)
-?/. - c.396T>C r.(?) p.(Tyr132=)
-?/. - c.406A>G r.(?) p.(Lys136Glu)
?/. - c.754G>T r.(?) p.(Gly252Cys)
?/. - c.787+15A>G r.(=) p.(=)
?/. - c.787+15A>G r.(=) p.(=)
?/. 6 c.1068C>A r.(?) p.(=)
-?/. - c.1195A>G r.(?) p.(Ile399Val)
-?/. - c.1234C>G r.(?) p.(Gln412Glu)
-?/. - c.1505A>G r.(?) p.(Glu502Gly)
?/. 8 c.1531C>T r.(?) P511S
-?/. - c.1715G>A r.(?) p.(Arg572His)
?/. 10 c.1783G>A r.(?) A595T
-?/. - c.1858G>A r.(?) p.(Gly620Ser)
-/. - c.1858G>A r.(?) p.(Gly620Ser)
-?/. - c.1864G>C r.(?) p.(Asp622His)
?/. - c.2167G>A r.(?) p.(Gly723Ser)
?/. - c.2239+15A>G r.(=) p.(=)
?/. - c.2239+15A>G r.(=) p.(=)
?/. - c.2245T>C r.(?) p.(Phe749Leu)
?/. - c.2251A>C r.(?) p.(Ile751Leu)
?/. - c.2270G>A r.(?) p.(Ser757Asn)
?/. 13 c.2295T>C r.(?) p.(=)
?/. - c.2338C>T r.(?) p.(Arg780Cys)
-?/. - c.2339G>A r.(?) p.(Arg780His)
?/. 13 c.2379A>G r.(?) T793T
-?/. - c.2423G>A r.(?) p.(Arg808Gln)
-?/. - c.2693C>G r.(?) p.(Ser898Cys)
?/. - c.2726-103C>T r.(=) p.(=)
?/. - c.2726-103C>T r.(=) p.(=)
?/. - c.2832+251del r.(=) p.(=)
?/. - c.2832+251del r.(=) p.(=)
?/. 17 c.3042C>T r.(?) p.(=)
?/. - c.3130A>G r.(?) p.(Met1044Val)
?/. - c.3198+104dup r.(=) p.(=)
?/. - c.3198+104dup r.(=) p.(=)
?/. - c.3198+104dup r.(=) p.(=)
?/. - c.3198+104dup r.(=) p.(=)
?/. - c.3215G>A r.(?) p.(Arg1072Gln)
?/. 19 c.3247G>T r.(?) V1083L
?/. - c.3361+238A>G r.(=) p.(=)
?/. - c.3361+238A>G r.(=) p.(=)
-?/. - c.3398C>T r.(?) p.(Thr1133Ile)
?/. - c.3407-110C>T r.(=) p.(=)
?/. - c.3407-110C>T r.(=) p.(=)
-?/. - c.3409G>T r.(?) p.(Val1137Leu)
-?/. - c.3421G>T r.(?) p.(Asp1141Tyr)
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