Note: This variant has not been sufficiently evaluated by a GET-Evidence editor.
To be considered sufficiently evaluated a variant must have both "variant evidence" and "clinical importance" scores filled in.
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(EYS Leu1419Ser)
Short summary
PolyPhen2: Benign, score 0.001 SIFT: Tolerated 0.46 GVGD: GV 353.86; GD 0.00; Class C0
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
hu011C57 - CGI sample GS01669-DNA_B05 from PGP sample 86486261 het G @ chr6:65301504
hu025CEA - CGI sample GS01669-DNA_D02 from PGP sample 27316983 hom G @ chr6:65301504
hu034DB1 - CGI sample GS00253-DNA_A02_200_37 het G @ chr6:65301504
hu04FD18 - CGI sample GS00253-DNA_F01_200_37 hom G @ chr6:65301504
hu0D879F - CGI sample GS00253-DNA_G01_200_37 hom G @ chr6:65301504
hu0E64A1 - CGI sample GS01173-DNA_B02 from PGP sample 94378523 het G @ chr6:65301504
hu241DEA - CGI sample GS01175-DNA_D05 from PGP sample 1205491 hom G @ chr6:65301504
hu2D6140 - CGI sample GS01173-DNA_F06 from PGP sample 64191565 hom G @ chr6:65301504
hu2DBF2D - CGI sample GS01173-DNA_G02 from PGP sample 67180598 het G @ chr6:65301504
hu342A08 - CGI sample GS01175-DNA_B05 from PGP sample 83494370 het G @ chr6:65301504
hu34D5B9 - CGI sample GS01173-DNA_C07 from PGP sample 92161424 het G @ chr6:65301504
hu38168C - CGI sample GS01173-DNA_H06 from PGP sample 91708424 het G @ chr6:65301504
hu3A8D13 - PGP13 (hu3A8D13) build 37, from CGI var (software ver 1.11.0.16), CGI sample GS000003289 hom G @ chr6:65301504
hu3CAB43 - CGI sample GS01175-DNA_D03 from PGP sample 27486199 hom G @ chr6:65301504
hu4040B8 - CGI sample GS01175-DNA_D01 from PGP sample 31286272 het G @ chr6:65301504
hu4339C0 - CGI sample GS01175-DNA_H01 from PGP sample 94797469 hom G @ chr6:65301504
hu43860C - CGI sample GS00253-DNA_A01_200_37 het G @ chr6:65301504
hu44DCFF - CGI sample GS01669-DNA_C07 from PGP sample 74521372 hom G @ chr6:65301504
hu4CA5B9 - CGI sample GS01669-DNA_B03 from PGP sample 14427241 hom G @ chr6:65301504
hu604D39 - CGI sample GS00253-DNA_B02_200_37 hom G @ chr6:65301504
hu6E4515 - PGP15 (hu6E4515) build 37, from CGI var (software ver 1.12.0.47), CGI sample GS000005532 het G @ chr6:65301504
hu728FFF - PGP11 (hu728FFF) build 36, substitution variants het G @ chr6:65358225
hu72A81D - CGI sample GS01173-DNA_C02 from PGP sample 10366372 hom G @ chr6:65301504
hu7A4AD1 - CGI sample GS01669-DNA_C05 from PGP sample 42408046 hom G @ chr6:65301504
hu92C40A - CGI sample GS01175-DNA_G03 from PGP sample 92527586 het G @ chr6:65301504
hu92FD55 - CGI sample GS01669-DNA_A04 from PGP sample 08188426 hom G @ chr6:65301504
hu9385BA - CGI sample GS00253-DNA_E01_200_37 het G @ chr6:65301504
huA0E089 - CGI sample GS01175-DNA_B04 from PGP sample 88590671 hom G @ chr6:65301504
huA90CE6 - PGP16 (huA90CE6) build 37, from CGI var (software ver 2.0.2.11), CGI sample GS000006909 hom G @ chr6:65301504
huAE4A11 - CGI sample GS01669-DNA_F02 from PGP sample 40767107 hom G @ chr6:65301504
huAE6220 - CGI sample GS00253-DNA_H01_200_37 het G @ chr6:65301504
huB1FD55 - CGI sample GS01173-DNA_B07 from PGP sample 61499538 hom G @ chr6:65301504
huBAAC98 - CGI sample GS01173-DNA_F02 from PGP sample 70008981 het G @ chr6:65301504
huBEDA0B - CGI sample GS00253-DNA_C01_200_37 het G @ chr6:65301504
huCA017E - CGI sample GS01175-DNA_B01 from PGP sample 86206034 hom G @ chr6:65301504
huD37D14 - CGI sample GS01175-DNA_A04 from PGP sample 13272228 het G @ chr6:65301504
huD81F3D - CGI sample GS01173-DNA_D06 from PGP sample 69488604 het G @ chr6:65301504
huE80E3D - CGI sample GS00253-DNA_D01_200_37 het G @ chr6:65301504
huFAF983 - CGI sample GS01175-DNA_F02 from PGP sample 95788191 hom G @ chr6:65301504
huFFAD87 - CGI sample GS01669-DNA_H05 from PGP sample 10971581 hom G @ chr6:65301504