Note: This variant has not been sufficiently evaluated by a GET-Evidence editor.
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(LEPRE1 Gly349Arg)
Short summary
PolyPhen2: Probably damaging 0.979 SIFT: Affect protein function 0.00 GVGD: Class C65
Impact
Insufficiently evaluated not reviewed
(The "insufficiently evaluated" qualifier is assigned automatically based on the above evidence and importance scores.)
Inheritance pattern
unknown
Summary of published research, and additional commentary
hu3A8D13 - PGP13 (hu3A8D13) build 37, from CGI var (software ver 1.11.0.16), CGI sample GS000003289 het T @ chr1:43223489
hu3CAB43 - CGI sample GS01175-DNA_D03 from PGP sample 27486199 het T @ chr1:43223489
hu728FFF - PGP11 (hu728FFF) build 36, substitution variants, hu728FFF build 36 substitution variants het T @ chr1:42996076
huB1FD55 - CGI sample GS01173-DNA_B07 from PGP sample 61499538 het T @ chr1:43223489
GS10851 - var-GS10851-1100-36-ASM het T @ chr1:42996076
GS18501 - var-GS18501-1100-36-ASM het T @ chr1:42996076
GS19025 - var-GS19025-1100-36-ASM het T @ chr1:42996076
GS19669 - var-GS19669-1100-36-ASM het T @ chr1:42996076
GS19700 - var-GS19700-1100-36-ASM het T @ chr1:42996076
GS19704 - var-GS19704-1100-36-ASM het T @ chr1:42996076
GS21767 - var-GS21767-1100-36-ASM het T @ chr1:42996076