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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(NEB Trp3348Cys)
Short summary
This variant could not be identified by Genome Browser or Ensembl. rs10172023 is a missense of W3360C.
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 @ chr2:152476028
hu034DB1 - CGI sample GS00253-DNA_A02_200_37 het G @ chr2:152476028
hu0D879F - CGI sample GS00253-DNA_G01_200_37 hom G @ chr2:152476028
hu232307 - PGP14 (hu232307) build 36, substitution variants, hu232307 build 36 substitution variants hom G @ chr2:152184274
hu241DEA - CGI sample GS01175-DNA_D05 from PGP sample 1205491 het G @ chr2:152476028
hu3215A7 - PGP12 (hu3215A7) build 36, substitution variants, hu3215A7 build 36 substitution variants het G @ chr2:152184274
hu342A08 - CGI sample GS01175-DNA_B05 from PGP sample 83494370 hom G @ chr2:152476028
hu34D5B9 - CGI sample GS01173-DNA_C07 from PGP sample 92161424, hu34D5B9 exome het G @ chr2:152476028
hu38168C - CGI sample GS01173-DNA_H06 from PGP sample 91708424 het G @ chr2:152476028
hu44DCFF - CGI sample GS01669-DNA_C07 from PGP sample 74521372 het G @ chr2:152476028
hu4CA5B9 - CGI sample GS01669-DNA_B03 from PGP sample 14427241 het G @ chr2:152476028
hu728FFF - PGP11 (hu728FFF) build 36, substitution variants, hu728FFF build 36 substitution variants het G @ chr2:152184274
hu7A4AD1 - CGI sample GS01669-DNA_C05 from PGP sample 42408046 het G @ chr2:152476028
hu92C40A - CGI sample GS01175-DNA_G03 from PGP sample 92527586 het G @ chr2:152476028
hu92FD55 - CGI sample GS01669-DNA_A04 from PGP sample 08188426 het G @ chr2:152476028
hu9385BA - CGI sample GS00253-DNA_E01_200_37 het G @ chr2:152476028
huA0E089 - CGI sample GS01175-DNA_B04 from PGP sample 88590671 hom G @ chr2:152476028
huA90CE6 - PGP16 (huA90CE6) build 37, from CGI var (software ver 2.0.2.11), CGI sample GS000006909 het G @ chr2:152476028
huAE4A11 - CGI sample GS01669-DNA_F02 from PGP sample 40767107 het G @ chr2:152476028
huAE6220 - CGI sample GS00253-DNA_H01_200_37 het G @ chr2:152476028
huB1FD55 - CGI sample GS01173-DNA_B07 from PGP sample 61499538 het G @ chr2:152476028
huBAAC98 - CGI sample GS01173-DNA_F02 from PGP sample 70008981 het G @ chr2:152476028
huC30901 - CGI sample GS00253-DNA_B01_200_37 het G @ chr2:152476028
huD37D14 - CGI sample GS01175-DNA_A04 from PGP sample 13272228 het G @ chr2:152476028
huD81F3D - CGI sample GS01173-DNA_D06 from PGP sample 69488604 hom G @ chr2:152476028
huFAF983 - CGI sample GS01175-DNA_F02 from PGP sample 95788191 het G @ chr2:152476028
GS06985 - var-GS06985-1100-36-ASM het G @ chr2:152184274
GS06994 - var-GS06994-1100-36-ASM het G @ chr2:152184274
GS07357 - var-GS07357-1100-36-ASM hom G @ chr2:152184274
GS10851 - var-GS10851-1100-36-ASM hom G @ chr2:152184274
GS18502 - var-GS18502-1100-36-ASM het G @ chr2:152184274
GS18504 - var-GS18504-1100-36-ASM het G @ chr2:152184274
GS18558 - var-GS18558-1100-36-ASM hom G @ chr2:152184274
GS18940 - var-GS18940-1100-36-ASM het G @ chr2:152184274
GS18947 - var-GS18947-1100-36-ASM het G @ chr2:152184274
GS18956 - var-GS18956-1100-36-ASM hom G @ chr2:152184274
GS19017 - var-GS19017-1100-36-ASM het G @ chr2:152184274
GS19020 - var-GS19020-1100-36-ASM het G @ chr2:152184274
GS19648 - var-GS19648-1100-36-ASM het G @ chr2:152184274
GS19670 - var-GS19670-1100-36-ASM het G @ chr2:152184274
GS19704 - var-GS19704-1100-36-ASM het G @ chr2:152184274
GS19834 - var-GS19834-1100-36-ASM het G @ chr2:152184274
GS20509 - var-GS20509-1100-36-ASM het G @ chr2:152184274