Variant: 17:43061313 CAAAA / C

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

Warning! This variant is only covered in 273 individuals (adjusted allele number = 546).
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: rs1252137299
Allele Frequency: 0.02747
Allele Count: 15 / 546
UCSC: 17-43061313-CAAAA-C
ClinVar: Click to search for variant in Clinvar
Heterozygote Number: 33
Homozygote Number: 70

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: 17:43061313 CAAAA / C

Variant: 17:43061313 CAAAA / C

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

Links

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