ABCA10 M916T - 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:

ABCA10 M916T

(ABCA10 Met916Thr)


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

  • G @ chr17:67178316: 75.9% (8166/10758) in EVS
  • G @ chr17:64689910: 58.1% (43/74) in GET-Evidence
  • Frequency shown in summary reports: 75.9% (8166/10758)

Publications
 

Genomes
 

hu011C57 - CGI sample GS01669-DNA_B05 from PGP sample 86486261
het G @ chr17:67178316

 

hu0D879F - CGI sample GS00253-DNA_G01_200_37
hom G @ chr17:67178316

 

 

 

hu34D5B9 - hu34D5B9 exome
het G @ chr17:67178316

 

 

hu4339C0 - CGI sample GS01175-DNA_H01 from PGP sample 94797469
hom G @ chr17:67178316

 

hu4CA5B9 - CGI sample GS01669-DNA_B03 from PGP sample 14427241
hom G @ chr17:67178316

 

 

hu8229AE - CGI sample GS01173-DNA_A07 from PGP sample 96240009
het G @ chr17:67178316

 

huA0E089 - CGI sample GS01175-DNA_B04 from PGP sample 88590671
hom G @ chr17:67178316

 

huD81F3D - CGI sample GS01173-DNA_D06 from PGP sample 69488604
het G @ chr17:67178316

 

huFAF983 - CGI sample GS01175-DNA_F02 from PGP sample 95788191
het G @ chr17:67178316

 

GS10851 - var-GS10851-1100-36-ASM
het G @ chr17:64689911

 

GS18504 - var-GS18504-1100-36-ASM
hom G @ chr17:64689911

 

GS18537 - var-GS18537-1100-36-ASM
hom G @ chr17:64689911

 

GS18558 - var-GS18558-1100-36-ASM
het G @ chr17:64689911

 

GS18942 - var-GS18942-1100-36-ASM
het G @ chr17:64689911

 

GS19020 - var-GS19020-1100-36-ASM
het G @ chr17:64689911

 

GS19025 - var-GS19025-1100-36-ASM
hom G @ chr17:64689911

 

GS19026 - var-GS19026-1100-36-ASM
hom G @ chr17:64689911

 

GS19129 - var-GS19129-1100-36-ASM
het G @ chr17:64689911

 

GS19238 - var-GS19238-1100-36-ASM
hom G @ chr17:64689911

 

GS19239 - var-GS19239-1100-36-ASM
hom G @ chr17:64689911

 

GS19648 - var-GS19648-1100-36-ASM
hom G @ chr17:64689911

 

GS19649 - var-GS19649-1100-36-ASM
het G @ chr17:64689911

 

GS19669 - var-GS19669-1100-36-ASM
het G @ chr17:64689911

 

GS19700 - var-GS19700-1100-36-ASM
hom G @ chr17:64689911

 

GS19735 - var-GS19735-1100-36-ASM
hom G @ chr17:64689911

 

GS19834 - var-GS19834-1100-36-ASM
hom G @ chr17:64689911

 

GS20502 - var-GS20502-1100-36-ASM
hom G @ chr17:64689911

 

GS20509 - var-GS20509-1100-36-ASM
hom G @ chr17:64689911

 

GS21767 - var-GS21767-1100-36-ASM
het G @ chr17:64689911

 

Other external references
 

    dbSNP
  • rs4968849
    www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi
    PolyPhen-2
  • Score: 0 (benign)

Other in silico analyses
 

  • NBLOSUM100 score = 2
  • GET-Evidence autoscore = 0

Edit history
 

Gene search

"GENE" or "GENE A123C":

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