Variant: 17:43091018 T / C

Warning! This variant is only covered in 463 individuals (adjusted allele number = 926).
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: rs2878973
Allele Frequency: 0.4428
Allele Count: 410 / 926
UCSC: 17-43091018-T-C
ClinVar: Click to search for variant in Clinvar
Heterozygote Number: 158
Homozygote Number: 126

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.Arg1371Gly)
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: 17:43091018 T / C

Variant: 17:43091018 T / C

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