MCPH1 P828S - 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:

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MCPH1 P828S

(MCPH1 Pro828Ser)


You are viewing an old version of this page that was saved on March 29, 2011 at 8:55pm by Genome Importing Robot.

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 @ chr8:6500544: 26.1% (2598/9946) in EVS
  • T @ chr8:6487951: 31.2% (40/128) in GET-Evidence
  • Frequency shown in summary reports: 26.1% (2598/9946)

Publications
 

Genomes
 

hu04FD18 - CGI sample GS00253-DNA_F01_200_37
hom T @ chr8:6500544

 

hu0D879F - CGI sample GS00253-DNA_G01_200_37
het T @ chr8:6500544

 

hu43860C - CGI sample GS00253-DNA_A01_200_37
het T @ chr8:6500544

 

hu9385BA - CGI sample GS00253-DNA_E01_200_37
het T @ chr8:6500544

 

huBEDA0B - CGI sample GS00253-DNA_C01_200_37
het T @ chr8:6500544

 

huE80E3D - CGI sample GS00253-DNA_D01_200_37
het T @ chr8:6500544

 

GS06985 - var-GS06985-1100-36-ASM
het T @ chr8:6487952

 

GS06994 - var-GS06994-1100-36-ASM
hom T @ chr8:6487952

 

GS07357 - var-GS07357-1100-36-ASM
het T @ chr8:6487952

 

GS18508 - var-GS18508-1100-36-ASM
het T @ chr8:6487952

 

GS18526 - var-GS18526-1100-36-ASM
het T @ chr8:6487952

 

GS18940 - var-GS18940-1100-36-ASM
het T @ chr8:6487952

 

GS18956 - var-GS18956-1100-36-ASM
het T @ chr8:6487952

 

GS19020 - var-GS19020-1100-36-ASM
het T @ chr8:6487952

 

GS19025 - var-GS19025-1100-36-ASM
hom T @ chr8:6487952

 

GS19239 - var-GS19239-1100-36-ASM
het T @ chr8:6487952

 

GS19648 - var-GS19648-1100-36-ASM
het T @ chr8:6487952

 

GS19649 - var-GS19649-1100-36-ASM
hom T @ chr8:6487952

 

GS19670 - var-GS19670-1100-36-ASM
het T @ chr8:6487952

 

Added in this revision:

GS19704 - var-GS19704-1100-36-ASM
hom T @ chr8:6487952

 

NA12156

 

NA12878

 

NA18956

 

snp-27

 

snp-28

 

snp-5

 

snp-6

 

Other external references
 

    dbSNP
  • rs1057091
    www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi
    GeneTests
  • GeneTests records for the MCPH1 gene
    Primary Autosomal Recessive Microcephaly
    Primary Autosomal Recessive Microcephaly Type 1
    www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/MCPH1
    PolyPhen-2
  • Score: 0 (benign)
    Web search results (0 hits -- see all)

Other in silico analyses
 

  • NBLOSUM100 score = 3
  • GET-Evidence autoscore = 1

Edit history
 

Gene search

"GENE" or "GENE A123C":

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