(used for mutation description)
(last modified May 1, 2014)
This file was created to facilitate the description of sequence variants in the CD8A gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NC_000002.11, covering CD8A transcript NM_001768.6.(upstream sequence) . . . | 02 . g.822 CGGGGACATTTGCAAACACGTCTTCGGTTCC | TGTGGTTGCAGTAA c.45 R G H L Q T R L R F L | W L Q X p.14 . . . . . . g.882 agggtgataaccagtgacaggagaaggaccccacaagtcccggccaagggcgcccagatg c.*60 . . . | 03. . . g.1148 tagatatcacaggcgaagtccagccccctcgtgtgca | ctgcgccccccgccgctggccgg c.*120 . . . . . . g.1208 cacgcctctgggcgcagggacaggggctgcgacgcgatggtgggcgccggtgttggtggt c.*180 . . | 04 . . . g.1845 cgcggcgctggcgtcgtggtgggcttcg | ctggcaggaagaccggcacgaagtggctgaag c.*240 . . . . . . g.1905 tacatgatggagttgctcagggccgagcagaaatagtagccctcgttctctcggcggaag c.*300 . . . . . . g.1965 tcgctcagggtgaggacgaaggtgtcccccaacctcttgcccgagaaccgctgggtgtcc c.*360 . . . . . . g.2025 agcccctcggccgccttgggcttgttttgggagaggtataggaggaaggtgggactggcg c.*420 . . . . . . g.2085 gcggcgccgcgcggctggaagagccacgagcagcccgacgtcgggttggacagcagcacc c.*480 . . . . . . g.2145 tggcacttcagctccactgtctcgcccaggttccaggtccgatccagcggcgacacccgg c.*540 . . | 05 . . . . g.2300 aactggctcggcctggcggcgt | ggagcagcaaggccagcggcaggagcaaggcggtcact c.*600 . . . . . . g.2360 ggtaaggccatgacgcgctccccaggacgctgcttggctcgaagctcgggcgcgagggga c.*660 . . . . . . g.2420 ggcgcgcgggagccggtggggcgccgaggggggaaagttgcgcccttcggccggcccgga c.*720 . . . . . . g.2480 gcctgatttcgcatttggaggatgtgatgtcacccgaagcccccgccgaggagagtcacc c.*780 . . . . . . g.2540 ctccttttcgcggttgtcgccttccagcccggcgaggaggctggggcccgtgaatagggc c.*840 . . . . . . g.2600 cgtcgaggcagcctggccaggcaactgggggcagctgaaaactgcgggtttggggatgag c.*900 . . . . . . g.2660 gaaaagggcttggaaatagtccttggaaatggttgtcttgtgagagtgacagagtgggtg c.*960 . . . . . . g.2720 aagggagaccaaagatttcaagaagtgagggcgagagtaggcagcaaaggaggggagtgt c.*1020 . . . . . . g.2780 cccttcctttgccttcactaaaggcgtctcttgtactgtcaccttgggactttttattgg c.*1080 . . . . . . g.2840 caaaatgggcactgagggctgaaaaggaagaggaactagcgacctgcccgcttctgagga c.*1140 . . . . . . g.2900 actcgctagagcagccccagttttcaccgaggaaggaccctctcccttcccccaggagat c.*1200 . . . . . . g.2960 ttccatgagagcggcagcagccgaagctttgggtgtcggtgtcagtgcgctgctgacctc c.*1260 . . . . . . g.3020 attcttccggcctttcatccagcggctaaactcaccacacagcctcatctcttcttggag c.*1320 . . . . . . g.3080 ccattgcaacagccttcaattcacaccagtctctctcctgatcagtcctccagccacgtt c.*1380 . . . . . . g.3140 gttataaaaattattattctcacaaaggggatctgacagcgtcactgctgcagcctccca c.*1440 . . . . . . g.3200 tggcctgcattgctggatggaaattcaacccccagcttggttgaccagcccttgggtgct c.*1500 | 06 . . . . . . g.12779 | t c.*1501 (downstream sequence)Legend:
Powered by LOVD v.2.0 Build 34
©2004-2014 Leiden University Medical Center