Variant: 17:43092635 C / T

Warning! This variant is only covered in 440 individuals (adjusted allele number = 880).
This means that the site is covered in fewer than 80% of the individuals in GMGD, which may indicate a low-quality site.

Genome build: GRCh37
Filter Status: PASS
dbSNP: rs9891298
Allele Frequency: 0.2909
Allele Count: 256 / 880
UCSC: 17-43092635-C-T
ClinVar: Click to search for variant in Clinvar
Heterozygote Number: 112
Homozygote Number: 72

Site Quality Metrics

Note: These are site-level quality metrics: they may be unpredictable for multi-allelic sites.

Annotations

This variant falls on 1 transcripts in 1 genes:

missense

BRCA1 - ENST00000471181 * (p.Val966Ile)
Polyphen: ; SIFT:

Note: This list may not include additional transcripts in the same gene that the variant does not overlap.

Population Frequencies

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Variant: 17:43092635 C / T

Variant: 17:43092635 C / T

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