HYDIN G489D - 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:

HYDIN G489D

(HYDIN Gly489Asp)


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

  • T @ chr16:69679908: 50.0% (43/86) in GET-Evidence
  • Frequency shown in summary reports: 50.0% (43/86)

Publications
 

Genomes
 

hu04FD18 - CGI sample GS00253-DNA_F01_200_37
het T @ chr16:71122408

 

hu0D879F

 

 

 

hu43860C - CGI sample GS00253-DNA_A01_200_37
het T @ chr16:71122408

 

 

hu9385BA

 

huA0E089 - CGI sample GS01175-DNA_B04 from PGP sample 88590671
het T @ chr16:71122408

 

huAE6220 - CGI sample GS00253-DNA_H01_200_37
het T @ chr16:71122408

 

huD81F3D - CGI sample GS01173-DNA_D06 from PGP sample 69488604
het T @ chr16:71122408

 

GS06985 - var-GS06985-1100-36-ASM
het T @ chr16:69679909

 

GS06994 - var-GS06994-1100-36-ASM
het T @ chr16:69679909

 

GS07357 - var-GS07357-1100-36-ASM
het T @ chr16:69679909

 

GS10851 - var-GS10851-1100-36-ASM
het T @ chr16:69679909

 

GS12004 - var-GS12004-1100-36-ASM
het T @ chr16:69679909

 

GS18501 - var-GS18501-1100-36-ASM
het T @ chr16:69679909

 

GS18502 - var-GS18502-1100-36-ASM
het T @ chr16:69679909

 

GS18504 - var-GS18504-1100-36-ASM
het T @ chr16:69679909

 

GS18505 - var-GS18505-1100-36-ASM
het T @ chr16:69679909

 

GS18517 - var-GS18517-1100-36-ASM
het T @ chr16:69679909

 

GS18526 - var-GS18526-1100-36-ASM
het T @ chr16:69679909

 

GS18555 - var-GS18555-1100-36-ASM
het T @ chr16:69679909

 

GS18940 - var-GS18940-1100-36-ASM
het T @ chr16:69679909

 

GS18942 - var-GS18942-1100-36-ASM
het T @ chr16:69679909

 

GS18947 - var-GS18947-1100-36-ASM
het T @ chr16:69679909

 

GS18956 - var-GS18956-1100-36-ASM
het T @ chr16:69679909

 

GS19020 - var-GS19020-1100-36-ASM
het T @ chr16:69679909

 

GS19129 - var-GS19129-1100-36-ASM
het T @ chr16:69679909

 

GS19239 - var-GS19239-1100-36-ASM
het T @ chr16:69679909

 

GS19648 - var-GS19648-1100-36-ASM
het T @ chr16:69679909

 

GS19649 - var-GS19649-1100-36-ASM
het T @ chr16:69679909

 

GS19670 - var-GS19670-1100-36-ASM
het T @ chr16:69679909

 

GS19700 - var-GS19700-1100-36-ASM
het T @ chr16:69679909

 

GS19704 - var-GS19704-1100-36-ASM
het T @ chr16:69679909

 

GS19735 - var-GS19735-1100-36-ASM
het T @ chr16:69679909

 

GS19834 - var-GS19834-1100-36-ASM
het T @ chr16:69679909

 

GS20502 - var-GS20502-1100-36-ASM
het T @ chr16:69679909

 

GS20509 - var-GS20509-1100-36-ASM
het T @ chr16:69679909

 

Other external references
 

    dbSNP
  • rs62040318
    www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi
    PolyPhen-2
  • Score: 0.995 (probably damaging)

Other in silico analyses
 

  • NBLOSUM100 score = 4
  • GET-Evidence autoscore = 1

Edit history
 

Gene search

"GENE" or "GENE A123C":

Log in