AK308144 R643H - 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:

AK308144 R643H

(AK308144 Arg643His)


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 @ chr4:17269179: 58.9% (73/124) in GET-Evidence
  • Frequency shown in summary reports: 58.9% (73/124)

Publications
 

Genomes
 

hu034DB1

 

hu04FD18

 

hu0D879F

 

 

 

hu43860C

 

hu728FFF - hu728FFF build 36 substitution variants
hom T @ chr4:17269180

 

hu9385BA

 

huAE6220

 

huBEDA0B

 

GS06985 - var-GS06985-1100-36-ASM
het T @ chr4:17269180

 

GS06994 - var-GS06994-1100-36-ASM
het T @ chr4:17269180

 

GS07357 - var-GS07357-1100-36-ASM
het T @ chr4:17269180

 

GS10851 - var-GS10851-1100-36-ASM
het T @ chr4:17269180

 

GS12004 - var-GS12004-1100-36-ASM
hom T @ chr4:17269180

 

GS18502 - var-GS18502-1100-36-ASM
hom T @ chr4:17269180

 

GS18504 - var-GS18504-1100-36-ASM
het T @ chr4:17269180

 

GS18508 - var-GS18508-1100-36-ASM
hom T @ chr4:17269180

 

GS18517 - var-GS18517-1100-36-ASM
hom T @ chr4:17269180

 

GS18526 - var-GS18526-1100-36-ASM
hom T @ chr4:17269180

 

GS18537 - var-GS18537-1100-36-ASM
hom T @ chr4:17269180

 

GS18555 - var-GS18555-1100-36-ASM
hom T @ chr4:17269180

 

GS18558 - var-GS18558-1100-36-ASM
hom T @ chr4:17269180

 

GS18940 - var-GS18940-1100-36-ASM
hom T @ chr4:17269180

 

GS18942 - var-GS18942-1100-36-ASM
hom T @ chr4:17269180

 

GS18947 - var-GS18947-1100-36-ASM
hom T @ chr4:17269180

 

GS18956 - var-GS18956-1100-36-ASM
het T @ chr4:17269180

 

GS19020 - var-GS19020-1100-36-ASM
hom T @ chr4:17269180

 

GS19025 - var-GS19025-1100-36-ASM
het T @ chr4:17269180

 

GS19026 - var-GS19026-1100-36-ASM
het T @ chr4:17269180

 

GS19239 - var-GS19239-1100-36-ASM
het T @ chr4:17269180

 

GS19240 - var-GS19240-1100-36-ASM
het T @ chr4:17269180

 

GS19648 - var-GS19648-1100-36-ASM
hom T @ chr4:17269180

 

GS19649 - var-GS19649-1100-36-ASM
het T @ chr4:17269180

 

GS19669 - var-GS19669-1100-36-ASM
hom T @ chr4:17269180

 

GS19670 - var-GS19670-1100-36-ASM
hom T @ chr4:17269180

 

GS19700 - var-GS19700-1100-36-ASM
het T @ chr4:17269180

 

GS19701 - var-GS19701-1100-36-ASM
het T @ chr4:17269180

 

GS19703 - var-GS19703-1100-36-ASM
het T @ chr4:17269180

 

GS19704 - var-GS19704-1100-36-ASM
hom T @ chr4:17269180

 

GS19735 - var-GS19735-1100-36-ASM
hom T @ chr4:17269180

 

GS20502 - var-GS20502-1100-36-ASM
hom T @ chr4:17269180

 

GS20509 - var-GS20509-1100-36-ASM
het T @ chr4:17269180

 

GS21767 - var-GS21767-1100-36-ASM
het T @ chr4:17269180

 

Other external references
 

    dbSNP
  • rs1860596
    www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi
    PolyPhen-2
  • Score: 0 (benign)

Other in silico analyses
 

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

Edit history
 

Gene search

"GENE" or "GENE A123C":

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