rs869320766

Overview
Prescribing Info
Drug Label Annotations
Clinical Annotations
Variant Annotations
Named Alleles
Literature
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Clinical Annotations
0
Variant Annotations
0
Rare Variant(gnomAD Genomes)Learn more about rare variants(opens in new window)

Associated Genes

Type

Indel

Classification

Non Synonymous

Locations

AssemblySequencePositionAllelesSource
GRCh38NC_000013.11(opens in new window)48037801
  • - > -
  • - > CGACTC
  • - > GACTCC
  • - > GAGTCG
dbSnp
GRCh37NC_000013.10(opens in new window)48611918
  • - > GACTCC
  • - > GGAGTC
dbSnp

Variant Frequencies

This variant is considered rare based on global allele frequencies based on data from gnomAD Genomes. more info

No frequencies available.

Identifiers

PharmGKB ID

PA166154762

Aliases

  • rs554405994 (retired)
  • NC_000013.10:g.48611918_48611919insGGAGTC
  • NC_000013.11:g.48037782_48037783insGGAGTC
  • NM_001304745.1:c.36_37insGGAGTC
  • NM_018283.2:c.36_37insGGAGTC
  • NP_001291674.1:p.Val18_Val19insGlyVal
  • NP_060753.1:p.Val18_Val19insGlyVal
  • XM_005266579.1:c.-340_-339insGACTCC
  • rs746071566

History

No history available.