ATP6V1B1 T30I - 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.

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Curation:
Currentness:

ATP6V1B1 T30I

(ATP6V1B1 Thr30Ile)


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 @ chr2:71163173: 15.9% (1711/10758) in EVS
  • T @ chr2:71016680: 15.6% (19/122) in GET-Evidence
  • Frequency shown in summary reports: 15.9% (1711/10758)

Publications
 

Genomes
 

hu034DB1 - CGI sample GS00253-DNA_A02_200_37
het T @ chr2:71163173

 

 

 

 

hu43860C - CGI sample GS00253-DNA_A01_200_37
het T @ chr2:71163173

 

 

hu9385BA - CGI sample GS00253-DNA_E01_200_37
het T @ chr2:71163173

 

 

huAE6220 - CGI sample GS00253-DNA_H01_200_37
hom T @ chr2:71163173

 

GS18558 - var-GS18558-1100-36-ASM
het T @ chr2:71016681

 

GS18940 - var-GS18940-1100-36-ASM
het T @ chr2:71016681

 

GS18942 - var-GS18942-1100-36-ASM
het T @ chr2:71016681

 

GS19669 - var-GS19669-1100-36-ASM
het T @ chr2:71016681

 

GS19670 - var-GS19670-1100-36-ASM
hom T @ chr2:71016681

 

GS19701 - var-GS19701-1100-36-ASM
het T @ chr2:71016681

 

GS19735 - var-GS19735-1100-36-ASM
het T @ chr2:71016681

 

GS19834 - var-GS19834-1100-36-ASM
het T @ chr2:71016681

 

GS20502 - var-GS20502-1100-36-ASM
het T @ chr2:71016681

 

GS21767 - var-GS21767-1100-36-ASM
het T @ chr2:71016681

 

Other external references
 

    dbSNP
  • rs17720303
    www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi

Other in silico analyses
 

  • NBLOSUM100 score = 3
  • GET-Evidence autoscore = 2

Edit history
 

Gene search

"GENE" or "GENE A123C":

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