KAL1 V534I - 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:

KAL1 V534I

(KAL1 Val534Ile)


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 @ chrX:8504833: 56.2% (4922/8761) in EVS
  • T @ chrX:8464832: 54.3% (50/92) in GET-Evidence
  • Frequency shown in summary reports: 56.2% (4922/8761)

Publications
 

Genomes
 

 

hu034DB1 - CGI sample GS00253-DNA_A02_200_37
het T @ chrX:8504833

 

hu0D879F - CGI sample GS00253-DNA_G01_200_37
hom T @ chrX:8504833

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

huAE6220 - CGI sample GS00253-DNA_H01_200_37
hom T @ chrX:8504833

 

 

huBEDA0B - CGI sample GS00253-DNA_C01_200_37
het T @ chrX:8504833

 

huC30901 - CGI sample GS00253-DNA_B01_200_37
hom T @ chrX:8504833

 

 

GS06985 - var-GS06985-1100-36-ASM
het T @ chrX:8464833

 

GS06994 - var-GS06994-1100-36-ASM
hom T @ chrX:8464833

 

GS07357 - var-GS07357-1100-36-ASM
hom T @ chrX:8464833

 

GS10851 - var-GS10851-1100-36-ASM
hom T @ chrX:8464833

 

GS12004 - var-GS12004-1100-36-ASM
het T @ chrX:8464833

 

GS18504 - var-GS18504-1100-36-ASM
hom T @ chrX:8464833

 

GS18505 - var-GS18505-1100-36-ASM
het T @ chrX:8464833

 

GS18517 - var-GS18517-1100-36-ASM
het T @ chrX:8464833

 

GS18526 - var-GS18526-1100-36-ASM
het T @ chrX:8464833

 

GS18537 - var-GS18537-1100-36-ASM
hom T @ chrX:8464833

 

GS18555 - var-GS18555-1100-36-ASM
hom T @ chrX:8464833

 

GS18558 - var-GS18558-1100-36-ASM
hom T @ chrX:8464833

 

GS18940 - var-GS18940-1100-36-ASM
hom T @ chrX:8464833

 

GS18942 - var-GS18942-1100-36-ASM
hom T @ chrX:8464833

 

GS18947 - var-GS18947-1100-36-ASM
hom T @ chrX:8464833

 

GS18956 - var-GS18956-1100-36-ASM
hom T @ chrX:8464833

 

GS19025 - var-GS19025-1100-36-ASM
hom T @ chrX:8464833

 

GS19238 - var-GS19238-1100-36-ASM
het T @ chrX:8464833

 

GS19240 - var-GS19240-1100-36-ASM
het T @ chrX:8464833

 

GS19648 - var-GS19648-1100-36-ASM
het T @ chrX:8464833

 

GS19649 - var-GS19649-1100-36-ASM
hom T @ chrX:8464833

 

GS19669 - var-GS19669-1100-36-ASM
het T @ chrX:8464833

 

GS19670 - var-GS19670-1100-36-ASM
hom T @ chrX:8464833

 

GS19700 - var-GS19700-1100-36-ASM
hom T @ chrX:8464833

 

GS19704 - var-GS19704-1100-36-ASM
hom T @ chrX:8464833

 

GS19735 - var-GS19735-1100-36-ASM
hom T @ chrX:8464833

 

GS19834 - var-GS19834-1100-36-ASM
hom T @ chrX:8464833

 

GS20502 - var-GS20502-1100-36-ASM
het T @ chrX:8464833

 

GS21767 - var-GS21767-1100-36-ASM
het T @ chrX:8464833

 

Other external references
 

    dbSNP
  • rs808119
    www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi
    PolyPhen-2
  • Score: 0 (benign)

Other in silico analyses
 

  • NBLOSUM100 score = –4
  • GET-Evidence autoscore = 3

Edit history
 

Gene search

"GENE" or "GENE A123C":

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