hgvs中的[数字],例如NM_144670.6(A2ML1):c.462+9GGA[5]中的[5]详细解释:
Repeated Sequences#
Repeated sequence: a sequence where, compared to a reference sequence, a segment of one or more nucleotides (the repeat unit) is present several times, one after the other.
Syntax#
NOTE: a Community Consultation proposal is being prepared which will suggest to allow only the format where the entire range of the repeated sequence is indicated; so g.123_191CAG[23]
, not g.123CAG[23]
.
Unique Repeat |
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