Transcript #00000411

Transcript name transcript variant X4
Gene name ADCK3 (aarF domain containing kinase 3)
Chromosome 1
Transcript - NCBI ID XM_005273204.1
Transcript - Ensembl ID -
Protein - NCBI ID XP_005273261.1
Protein - Ensembl ID -
Protein - Uniprot ID -
Remarks -


Variants

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

Location     

Exon     

AscendingDNA change (cDNA)     

Protein     

PolyPhen     

GVS function     

Splice distance     

SIFT     
./. - - c.-645C>A - - - - -
./. - - c.-621A>G - - - - -
./. - - c.-583C>T - - - - -
./. - - c.-510T>C - - - - -
./. - - c.63G>A - - - - -
./. - - c.117G>A - - - - -
./. - - c.220G>A - - - - -
./. - - c.238C>T - - - - -
./. - - c.255T>G - - - - -
./. - - c.258A>C - - - - -
./. - - c.291C>T - - - - -
./. - - c.358G>A - - - - -
./. - - c.427G>A - - - - -
./. - - c.500_521delinsTTG - - - - -
./. - - c.521C>A - - - - -
./. - - c.633_640del - - - - -
./. - - c.637C>T - - - - -
+/+ - 4/15 c.637C>T - probably_damaging(1) missense_variant - deleterious(0)
./. - - c.687G>A - - - - -
./. - - c.697G>A - - - - -
./. - - c.719A>C - - - - -
./. - - c.798G>A - - - - -
./. - - c.811C>T - - - - -
./. - - c.815G>A - - - - -
+/+ - 11/20 c.815G>A - probably_damaging(1) missense_variant - deleterious(0)
./. - - c.815G>T - - - - -
+/+ - 11/20 c.815G>T - probably_damaging(1) missense_variant - deleterious(0)
./. - - c.830T>C - - - - -
./. - - c.895C>T - - - - -
./. - - c.901C>T - - - - -
./. - - c.993C>T - - - - -
+/+ - 13/20 c.993C>T - - synonymous_variant - -
./. - - c.1000C>T - - - - -
./. - - c.1006del - - - - -
./. - - c.1042C>T - - - - -
./. - - c.1053C>T - - - - -
./. - - c.1060G>A - - - - -
./. - - c.1081-3_1081-2insAGT - - - - -
./. - - c.1136T>A - - - - -
./. - - c.1163-10C>T - - - - -
./. - - c.1185C>T - - - - -
./. - - c.1188C>T - - - - -
./. - - c.1229G>A - - - - -
./. - - c.1256+11C>G - - - - -
./. - - c.1258G>A - - - - -
./. - - c.1286A>G - - - - -
./. - - c.1332_1333del - - - - -
./. - - c.1396del - - - - -
./. - - c.1398+2T>C - - - - -
./. - - c.1398+12C>A - - - - -
./. - - c.1399-13G>A - - - - -
./. - - c.1440C>T - - - - -
./. - - c.1506+1G>A - - - - -
./. - - c.1523T>C - - - - -
./. - - c.1532C>T - - - - -
+/+ - 18/20 c.1541A>G - probably_damaging(0.978) missense_variant - deleterious(0)
./. - - c.1541A>G - - - - -
./. - - c.1573-20C>G - - - - -
./. - - c.1644C>T - - - - -
./. - - c.1645G>A - - - - -
+/+ - 19/20 c.1645G>A - probably_damaging(0.991) missense_variant - deleterious(0)
+/+ - 19/20 c.1651G>A - probably_damaging(0.996) missense_variant - deleterious(0)
./. - - c.1651G>A - - - - -
./. - - c.1660-9T>C - - - - -
./. - - c.1665G>A - - - - -
./. - - c.1679T>C - - - - -
./. - - c.1711G>A - - - - -
./. - - c.1713C>A - - - - -
./. - - c.1716T>C - - - - -
./. - - c.1741_1742insA - - - - -
./. - - c.1746_1748del - - - - -
?/? - - c.1747_1749del - - - - -
?/? - - c.1750_1752del - - - - -
./. - - c.1800C>T - - - - -
./. - - c.1809C>T - - - - -
./. - - c.1811_1812insG - - - - -
?/? - 20/20 c.1811_1812insG - - frameshift_variant - -
?/? - - c.1813dup - - - - -
./. - 20/20 c.1813_1814insGA - - frameshift_variant - -
./. - - c.1838_1839insG - - - - -
./. - - c.1844G>A - - - - -
./. - - c.1865_1866insGCT - - - - -
./. - - c.1914C>T - - - - -
./. - - c.1939C>T - - - - -
./. - - c.1942T>G - - - - -
./. - - c.*22C>T - - - - -
./. - - c.*70_*71insG - - - - -
./. - - c.*133G>A - - - - -
./. - - c.*150C>T - - - - -
./. - - c.*184G>C - - - - -
./. - - c.*230G>A - - - - -
./. - - c.*252A>C - - - - -
./. - - c.*326C>G - - - - -
./. - - c.*349G>A - - - - -
./. - - c.*385_*386insT - - - - -
./. - - c.*425G>T - - - - -
./. - - c.*464G>A - - - - -
./. - - c.*570T>C - - - - -
./. - - c.*612C>T - - - - -
./. - - c.*613G>A - - - - -
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