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Variant (rsID / SNP)

rs148929192

ATP1A2

rs148929192 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to ATP1A2. Location: chromosome 1, position 160,093,164. Clinical significance in the table: Benign/Likely benign.

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Reference-table entries

ATP1A2Benign
Clinical significance (as recorded)
Benign/Likely benign
Variant type
single nucleotide variant
Chromosome / position
1:160093164
Cytoband
1q23.2
HGVS
NM_000702.4(ATP1A2):c.339C>T (p.Tyr113=)
Allele change
Synonymous_Y113Y

Associated conditions / phenotypes

Alternating hemiplegia of childhood 1|Familial hemiplegic migraine|Migraine, familial hemiplegic, 2|FETAL AKINESIA, RESPIRATORY INSUFFICIENCY, MICROCEPHALY, POLYMICROGYRIA, AND DYSMORPHIC FACIES|Developmental and epileptic encephalopathy 98

Public references

Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.