Variant (rsID / SNP)

rs114621989

rs114621989 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to DNAH7. Location: chromosome 2, position 196,602,773. Clinical significance in the table: Benign.

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Reference-table entries

DNAH7Benign

Clinical significance (as recorded): Benign
Variant type: single nucleotide variant
Chromosome / position: 2:196602773
Cytoband: 2q32.3
HGVS: NM_018897.3(DNAH7):c.11947C>T (p.Arg3983Trp)
Allele change: Missense_R3983W

Associated conditions / phenotypes

Primary ciliary dyskinesia|Abdominal situs inversus

Public references

dbSNP
ClinVar
Ensembl
gnomAD

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