ZFYVE19 R48Shift - GET-Evidence

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.

Please help improve GET-Evidence by evaluating evidence for this variant!

Curation:
Currentness:

ZFYVE19 R48Shift

(ZFYVE19 48delRinsShift)


Short summary

 

Variant evidence
Computational -
Functional -
Case/Control -
Familial -
 
Clinical importance
Severity -
Treatability -
Penetrance -
 

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

 

Allele frequency

  • GGGGC @ chr15:38887191: 0.8% (1/122) in GET-Evidence
  • Frequency shown in summary reports: 0.8% (1/122)

Publications
 

Genomes
 

hu011C57 - CGI sample GS01669-DNA_B05 from PGP sample 86486261
het GGGGC @ chr15:41099900

 

hu0D879F - CGI sample GS00253-DNA_G01_200_37
het GGGGC @ chr15:41099900

 

hu2DBF2D - CGI sample GS01173-DNA_G02 from PGP sample 67180598
het GGGGC @ chr15:41099900

 

hu342A08 - CGI sample GS01175-DNA_B05 from PGP sample 83494370
hom GGGGC @ chr15:41099900

 

hu34D5B9 - CGI sample GS01173-DNA_C07 from PGP sample 92161424
het GGGGC @ chr15:41099900

 

hu3CAB43 - CGI sample GS01175-DNA_D03 from PGP sample 27486199
het GGGGC @ chr15:41099900

 

hu4040B8 - CGI sample GS01175-DNA_D01 from PGP sample 31286272
het GGGGC @ chr15:41099900

 

hu44DCFF - CGI sample GS01669-DNA_C07 from PGP sample 74521372
hom GGGGC @ chr15:41099900

 

hu604D39 - CGI sample GS00253-DNA_B02_200_37
het GGGGC @ chr15:41099900

 

hu72A81D - CGI sample GS01173-DNA_C02 from PGP sample 10366372
het GGGGC @ chr15:41099900

 

hu7A4AD1 - CGI sample GS01669-DNA_C05 from PGP sample 42408046
hom GGGGC @ chr15:41099900

 

hu8229AE - CGI sample GS01173-DNA_A07 from PGP sample 96240009
hom GGGGC @ chr15:41099900

 

hu92C40A - CGI sample GS01175-DNA_G03 from PGP sample 92527586
hom GGGGC @ chr15:41099900

 

hu92FD55 - CGI sample GS01669-DNA_A04 from PGP sample 08188426
hom GGGGC @ chr15:41099900

 

hu9385BA - CGI sample GS00253-DNA_E01_200_37
het GGGGC @ chr15:41099900

 

huA0E089 - CGI sample GS01175-DNA_B04 from PGP sample 88590671
het GGGGC @ chr15:41099900

 

 

huAE4A11 - CGI sample GS01669-DNA_F02 from PGP sample 40767107
het GGGGC @ chr15:41099900

 

huB1FD55 - CGI sample GS01173-DNA_B07 from PGP sample 61499538
het GGGGC @ chr15:41099900

 

huBAAC98 - CGI sample GS01173-DNA_F02 from PGP sample 70008981
het GGGGC @ chr15:41099900

 

huD37D14 - CGI sample GS01175-DNA_A04 from PGP sample 13272228
het GGGGC @ chr15:41099900

 

huD81F3D - CGI sample GS01173-DNA_D06 from PGP sample 69488604
het GGGGC @ chr15:41099900

 

GS06985 - var-GS06985-1100-36-ASM
hom GGGGC @ chr15:38887202

 

GS10851 - var-GS10851-1100-36-ASM
hom GGGGC @ chr15:38887202

 

GS12004 - var-GS12004-1100-36-ASM
het GGGGC @ chr15:38887202

 

GS18501 - var-GS18501-1100-36-ASM
het GGGGC @ chr15:38887202

 

GS18504 - var-GS18504-1100-36-ASM
het GGGGC @ chr15:38887202

 

GS18508 - var-GS18508-1100-36-ASM
het GGGGC @ chr15:38887202

 

GS18517 - var-GS18517-1100-36-ASM
het GGGGC @ chr15:38887202

 

GS18537 - var-GS18537-1100-36-ASM
het GGGGC @ chr15:38887202

 

GS18940 - var-GS18940-1100-36-ASM
het GGGGC @ chr15:38887202

 

GS19020 - var-GS19020-1100-36-ASM
het GGGGC @ chr15:38887202

 

GS19129 - var-GS19129-1100-36-ASM
het GGGGC @ chr15:38887202

 

GS19238 - var-GS19238-1100-36-ASM
het GGGGC @ chr15:38887202

 

GS19239 - var-GS19239-1100-36-ASM
het GGGGC @ chr15:38887202

 

GS19704 - var-GS19704-1100-36-ASM
het GGGGC @ chr15:38887202

 

GS19735 - var-GS19735-1100-36-ASM
het GGGGC @ chr15:38887202

 

GS20502 - var-GS20502-1100-36-ASM
het GGGGC @ chr15:38887202

 

Other external references
 

    dbSNP
  • rs62018606
    www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi

Other in silico analyses
 

  • NBLOSUM100 score = 4
  • GET-Evidence autoscore = 2

Edit history
 

Gene search

"GENE" or "GENE A123C":

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