Transcript #00000973 (NM_000444.4, PHEX gene)

Transcript name phosphate regulating endopeptidase homolog, X-linked
Gene name PHEX (phosphate regulating endopeptidase homolog, X-linked)
Chromosome X
Transcript - NCBI ID NM_000444.4
Transcript - Ensembl ID -
Protein - NCBI ID NP_000435.3
Protein - Ensembl ID -
Protein - Uniprot ID -
Exon/intron information Exon/intron information table: HTML, Txt
Remarks -


Variants

2589 entries on 26 pages. Showing entries 1 - 100.
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Affects function     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     
?/. _1 - r.(?) p.(?)
+/. 9i_11i c.(1079+1_1080-1)_(1302+1_1303-1)del r.? p.?
+/. 9i_22_ c.(1079+1_1080-1)_*3357{0} r.? p.?
+/. 10i_11i c.(1173+1_1174-1)_(1302+1_1303-1)del r.? p.?
+/. 1i_11i c.(118+1_119-1)_(1302+1_1303-1)dup r.? p.?
+/. 1i_11i c.(118+1_119-1)_(1302+1_1303-1)dup r.? p.?
+/. 1i_2i c.(118+1_119-1)_(187+1_188-1)del r.? p.?
+/. 1i_3i c.(118+1_119-1)_(349+1_350-1){0} r.? p.?
?/. 1i_22_ c.(118+1_119-1)_*3357{2} r.? p.?
?/. 1i_22_ c.(118+1_119-1)_*3357{2} r.? p.?
+/. 11i_12i c.(1302+1_1303-1)_(1404+1_1405-1)del r.? p.?
+/. 11i_12i c.(1302+1_1303-1)_(1404+1_1405-1)del r.? p.?
+/. 12i_13i c.(1404+1_1405-1)_(1482+1_1483-1)del r.? p.?
+/. 12i_22_ c.(1404+1_1405-1)_*3357{0} r.? p.?
+/. 12i_22_ c.(1404+1_1405-1)_*3357{0} r.? p.?
+/. 12i_22_ c.(1404+1_1405-1)_*3357{0} r.? p.?
+/. 12i_22_ c.(1404+1_1405-1)_*3357{0} r.? p.?
+/. 12i_22_ c.(1404+1_1405-1)_*3357{2} r.? p.?
+/. 14i_22_ c.(1586+1_1587-1)_*3357{0} r.? p.?
+/. 15i_22_ c.(1645+1_1646-1)_*3357{0} r.? p.?
+/. 15i_22_ c.(1645+1_1646-1)_*3357{0} r.? p.?
+/. 15i_22_ c.(1645+1_1646-1)_*3357{0} r.? p.?
+/. 15i_22_ c.(1645+1_1646-1)_*3357{0} r.? p.?
+/. 15i_22_ c.(1645+1_1646-1)_*3357{0} r.? p.?
+/. 15i_22_ c.(1645+1_1646-1)_*3357{0} r.? p.?
?/. 15i_22_ c.(1645+1_1646-1)_*3357{0} r.? p.?
+/. 16i_18i c.(1700+1_1701-1)_(1899+1_1900-1)del r.? p.?
+/. 16i_22_ c.(1700+1_1701-1)_*3357{0} r.? p.?
+?/. 16i_22_ c.(1700+1_1701-1)_*3357{0} r.? p.?
+/. 16i_22_ c.(1700+1_1701-1)_*3357{0} r.? p.?
+/. 16i_22_ c.(1700+1_1701-1)_*3357{0} r.? p.?
+/? 16i_22_ c.(1700+1_1701-1)_*3357{0} r.? p.?
+/. 17i_22_ c.(1768+1_1769-1)_*3357{0) r.? p.?
?/. 18i_22_ c.(1899+1_1900-1)_*3357{0} r.? p.?
+/. 18i_22_ c.(1899+1_1900-1)_*3357{2} r.? p.?
+/. 18i_22_ c.(1899+1_1900-1)_*3357{2} r.? p.?
+/. 18i_22_ c.(1899+1_1900-1)_*3357{2} r.? p.?
+/. 18i_22_ c.(1899+1_1900-1)_*3357{2} r.? p.?
+/. 18i_22_ c.(1899+1_1900-1)_*3357{2} r.? p.?
+/. 18i_22_ c.(1899+1_1900-1)_*3357{2} r.? p.?
?/. 18i_22_ c.(1899+1_1900-1)_*3357{2} r.? p.?
+/. 19i_22_ c.(1965+1_1966-1)_*3357{0} r.? p.?
?/. 19i_22_ c.(1965+1_1966-1)_*3357{0} r.? p.?
+/. 20i_22_ c.(2070+1_2071-1)_*3357{0} r.? p.?
+/. 20i_22_ c.(2070+1_2071-1)_*3357{0} r.? p.?
+/. 20i_22_ c.(2070+1_2071-1)_*3357{0} r.? p.?
+/. 20i_22_ c.(2070+1_2071-1)_*3357{0} r.? p.?
+/. 20i_22_ c.(2070+1_2071-1)_*3357{0} r.? p.?
+/. 20i_22_ c.(2070+1_2071-1)_*3357{0} r.? p.?
+/. 20i_22_ c.(2070+1_2071-1)_*3357{0} r.? p.?
?/. 20i_22_ c.(2070+1_2071-1)_*3357{2} r.? p.?
?/. 20i_22_ c.(2070+1_2071-1)_*3357{2} r.? p.?
+/. 21i_22_ c.(2147+1_2148-1)_*3357{0} r.? p.?
+/. 21i_22_ c.(2147+1_2148-1)_*3357{0} r.? p.?
+/. 21i_22_ c.(2147+1_2148-1)_*3357{0} r.? p.?
+/. 21i_22i c.(2147+1_2148-1)_*3357{0} r.? p.?
+/. 3i_20i c.(349+1_350-1)_(2070+1_2071-1)del r.? p.?
+/. 3i_22_ c.(349+1_350-1)_*3357{0} r.? p.?
+/. 3i_22_ c.(349+1_350-1)_*3357{0} r.? p.?
+/. 3i_22_ c.(349+1_350-1)_*3357{0} r.? p.?
+/. 6i_11i c.(732+1_733-1)_(1302+1_1303-1)del r.? p.?
+/. 6i_8i c.(732+1_733-1)_(933+1_934-1)del r.spl p.?
+/. 7i_9i c.(849+1_850-1)_(1079+1_1080-1)del r.? p.?
+/. 8i_22_ c.(933+1_934-1)_*3357{0} r.? p.?
+/. 8i_22_ c.(933+1_934-1)_*3357{0} r.? p.?
+?/. 22 c.*231A>G r.? p.?
+?/. 22 c.*231A>G r.? p.?
+/. 22 c.*231A>G r.? p.?
+/. 22 c.*231A>G r.? p.?
+/. 22 c.*231A>G r.? p.?
+/. 22 c.*231A>G r.? p.?
+/. 22 c.*231A>G r.? p.?
?/. 22 c.*231A>G r.? p.(=)
?/. 22 c.*231A>G r.? p.(=)
?/. 22 c.*231A>G r.? p.(=)
+?/. 22 c.*231A>G r.(?) p.(?)
?/. 22 c.*58C>T r.(?) p.(?)
?/. 22 c.*58C>T r.(?) p.(=)
?/. 22 c.*58C>T r.(?) p.(=)
?/. 22 c.*58C>T r.(?) p.(=)
?/. 22 c.*58C>T r.(?) p.(=)
?/. 22 c.*58C>T r.(?) p.(=)
?/. 22 c.*58C>T r.(?) p.(=)
?/. 22 c.*58C>T r.(?) p.(=)
+/. _1_9i c.-681_(1079+1_1080-1){0} r.0? p.0?
+?/. _1_9i c.-681_(1079+1_1080-1){0} r.? p.0?
+/. _1_10i c.-681_(1173+1_1174-1){0} r.0? p.0?
+/. _1_10i c.-681_(1173+1_1174-1){0} r.? p.0?
+/. _1_1i c.-681_(118+1_119-1){0} r.? p.0?
+/. _1_1i c.-681_(118+1_119-1){0} r.0? p.0?
+/. _1_14i c.-681_(1586+1_1587-1){0} r.0? p.0?
+/. _1_14i c.-681_(1586+1_1587-1){0} r.? p.0?
+/. _1_15i c.-681_(1645+1_1646-1){0} r.0? p.0?
+/. _1_15i c.-681_(1645+1_1646-1){0} r.? p.0?
+/. _1_2i c.-681_(187+1_188-1){0} r.0? p.0?
+/. _1_2i c.-681_(187+1_188-1){0} r.? p.0?
+/. _1_3i c.-681_(349+1_350-1){0} r.0? p.0?
+/. _1_3i c.-681_(349+1_350-1){0} r.0? p.0?
+/. _1_3i c.-681_(349+1_350-1){0} r.0? p.0?
+/+? _1_3i c.-681_(349+1_350-1){0} r.? p.0?
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