Variant: 17:43117462 CA / C

Note: This variant is multiallelic! The other alt alleles are:

17-43117462-C-CA

Warning! This variant is only covered in 462 individuals (adjusted allele number = 924).
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: rs1386509998
Allele Frequency: 0.008658
Allele Count: 8 / 924
UCSC: 17-43117462-CA-C
ClinVar: Click to search for variant in Clinvar
Heterozygote Number: 24
Homozygote Number: 1

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:

intron

BRCA1 - ENST00000471181 *

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: 17:43117462 CA / C

Variant: 17:43117462 CA / C

Note: This variant is multiallelic! The other alt alleles are:

Links

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