ACIN1 S647SRS - 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:

ACIN1 S647SRS

(ACIN1 647delSinsSRS)


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

  • None available.

Publications
 

Genomes
 

hu011C57 - CGI sample GS01669-DNA_B05 from PGP sample 86486261
het GAACGT @ chr14:23548784

 

hu025CEA - CGI sample GS01669-DNA_D02 from PGP sample 27316983
het GAACGT @ chr14:23548784

 

hu04FD18 - CGI sample GS00253-DNA_F01_200_37
hom GAACGT @ chr14:23548784

 

hu0E64A1 - CGI sample GS01173-DNA_B02 from PGP sample 94378523
het GAACGT @ chr14:23548784

 

hu2D6140 - CGI sample GS01173-DNA_F06 from PGP sample 64191565
het GAACGT @ chr14:23548784

 

hu342A08 - CGI sample GS01175-DNA_B05 from PGP sample 83494370
het GAACGT @ chr14:23548784

 

 

hu44DCFF - CGI sample GS01669-DNA_C07 from PGP sample 74521372
het GAACGT @ chr14:23548784

 

hu4CA5B9 - CGI sample GS01669-DNA_B03 from PGP sample 14427241
het GAACGT @ chr14:23548784

 

hu604D39 - CGI sample GS00253-DNA_B02_200_37
hom GAACGT @ chr14:23548784

 

hu6E4515 - CGI sample GS000005532
het CGTGAA @ chr14:23548793

 

hu7A4AD1 - CGI sample GS01669-DNA_C05 from PGP sample 42408046
het GAACGT @ chr14:23548784

 

hu92FD55 - CGI sample GS01669-DNA_A04 from PGP sample 08188426
het GAACGT @ chr14:23548784

 

hu9385BA - CGI sample GS00253-DNA_E01_200_37
het GAACGT @ chr14:23548784

 

huA0E089 - CGI sample GS01175-DNA_B04 from PGP sample 88590671
hom GAACGT @ chr14:23548784

 

huA90CE6 - CGI sample GS000006909
het GAACGT @ chr14:23548784

 

huCA017E - CGI sample GS01175-DNA_B01 from PGP sample 86206034
het GAACGT @ chr14:23548784

 

huD37D14 - CGI sample GS01175-DNA_A04 from PGP sample 13272228
het GAACGT @ chr14:23548784

 

huD81F3D - CGI sample GS01173-DNA_D06 from PGP sample 69488604
het GAACGT @ chr14:23548784

 

huE80E3D - CGI sample GS00253-DNA_D01_200_37
het GAACGT @ chr14:23548784

 

huFAF983 - CGI sample GS01175-DNA_F02 from PGP sample 95788191
het GAACGT @ chr14:23548784

 

huFFAD87 - CGI sample GS01669-DNA_H05 from PGP sample 10971581
het GAACGT @ chr14:23548784

 

Other external references
 

    dbSNP
  • rs3077646
    www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi

Other in silico analyses
 

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

Edit history
 

Gene search

"GENE" or "GENE A123C":

Log in