APOBEC3F A108S - 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:

APOBEC3F A108S

(APOBEC3F Ala108Ser)


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 @ chr22:39441096: 43.5% (4675/10746) in EVS
  • T @ chr22:37771041: 51.1% (47/92) in GET-Evidence
  • Frequency shown in summary reports: 43.5% (4675/10746)

Publications
 

Genomes
 

hu011C57 - CGI sample GS01669-DNA_B05 from PGP sample 86486261
het T @ chr22:39441096

 

hu025CEA - CGI sample GS01669-DNA_D02 from PGP sample 27316983
hom T @ chr22:39441096

 

hu034DB1 - CGI sample GS00253-DNA_A02_200_37
het T @ chr22:39441096

 

 

hu241DEA - CGI sample GS01175-DNA_D05 from PGP sample 1205491
het T @ chr22:39441096

 

hu2DBF2D - CGI sample GS01173-DNA_G02 from PGP sample 67180598
het T @ chr22:39441096

 

 

hu342A08 - CGI sample GS01175-DNA_B05 from PGP sample 83494370
het T @ chr22:39441096

 

 

hu38168C - CGI sample GS01173-DNA_H06 from PGP sample 91708424
het T @ chr22:39441096

 

hu3CAB43 - CGI sample GS01175-DNA_D03 from PGP sample 27486199
het T @ chr22:39441096

 

hu4339C0 - CGI sample GS01175-DNA_H01 from PGP sample 94797469
hom T @ chr22:39441096

 

hu4CA5B9 - CGI sample GS01669-DNA_B03 from PGP sample 14427241
het T @ chr22:39441096

 

hu7A4AD1 - CGI sample GS01669-DNA_C05 from PGP sample 42408046
hom T @ chr22:39441096

 

hu92C40A - CGI sample GS01175-DNA_G03 from PGP sample 92527586
hom T @ chr22:39441096

 

hu92FD55 - CGI sample GS01669-DNA_A04 from PGP sample 08188426
het T @ chr22:39441096

 

hu9385BA - CGI sample GS00253-DNA_E01_200_37
het T @ chr22:39441096

 

huA0E089 - CGI sample GS01175-DNA_B04 from PGP sample 88590671
het T @ chr22:39441096

 

 

huAE4A11 - CGI sample GS01669-DNA_F02 from PGP sample 40767107
het T @ chr22:39441096

 

huAE6220 - CGI sample GS00253-DNA_H01_200_37
het T @ chr22:39441096

 

huBAAC98 - CGI sample GS01173-DNA_F02 from PGP sample 70008981
het T @ chr22:39441096

 

huBEDA0B

 

huCA017E - CGI sample GS01175-DNA_B01 from PGP sample 86206034
hom T @ chr22:39441096

 

huD81F3D - CGI sample GS01173-DNA_D06 from PGP sample 69488604
hom T @ chr22:39441096

 

huE80E3D - CGI sample GS00253-DNA_D01_200_37
hom T @ chr22:39441096

 

huFAF983 - CGI sample GS01175-DNA_F02 from PGP sample 95788191
het T @ chr22:39441096

 

GS07357 - var-GS07357-1100-36-ASM
het T @ chr22:37771042

 

GS10851 - var-GS10851-1100-36-ASM
het T @ chr22:37771042

 

GS18504 - var-GS18504-1100-36-ASM
het T @ chr22:37771042

 

GS18505 - var-GS18505-1100-36-ASM
het T @ chr22:37771042

 

GS18517 - var-GS18517-1100-36-ASM
hom T @ chr22:37771042

 

GS18526 - var-GS18526-1100-36-ASM
hom T @ chr22:37771042

 

GS18537 - var-GS18537-1100-36-ASM
hom T @ chr22:37771042

 

GS18555 - var-GS18555-1100-36-ASM
hom T @ chr22:37771042

 

GS18558 - var-GS18558-1100-36-ASM
hom T @ chr22:37771042

 

GS18940 - var-GS18940-1100-36-ASM
hom T @ chr22:37771042

 

GS18942 - var-GS18942-1100-36-ASM
het T @ chr22:37771042

 

GS18947 - var-GS18947-1100-36-ASM
het T @ chr22:37771042

 

GS18956 - var-GS18956-1100-36-ASM
hom T @ chr22:37771042

 

GS19649 - var-GS19649-1100-36-ASM
het T @ chr22:37771042

 

GS19670 - var-GS19670-1100-36-ASM
hom T @ chr22:37771042

 

GS19700 - var-GS19700-1100-36-ASM
hom T @ chr22:37771042

 

GS19834 - var-GS19834-1100-36-ASM
het T @ chr22:37771042

 

GS20502 - var-GS20502-1100-36-ASM
het T @ chr22:37771042

 

GS20509 - var-GS20509-1100-36-ASM
het T @ chr22:37771042

 

Other external references
 

    dbSNP
  • rs2020390
    www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi
    PolyPhen-2
  • Score: 0.773 (possibly damaging)

Other in silico analyses
 

  • NBLOSUM100 score = –1
  • GET-Evidence autoscore = 0

Edit history
 

Gene search

"GENE" or "GENE A123C":

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