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Variant (rsID / SNP)

rs767503038

CHRNG

rs767503038 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to CHRNG. Location: chromosome 2, position 233,407,740. Clinical significance in the table: Pathogenic.

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Reference-table entries

CHRNGPathogenic
Clinical significance (as recorded)
Pathogenic
Variant type
Deletion
Chromosome / position
2:233407740
Cytoband
2q37.1
HGVS
NM_005199.5(CHRNG):c.753_754del (p.Val253fs)

Associated conditions / phenotypes

Lethal multiple pterygium syndrome|Autosomal recessive multiple pterygium syndrome|Inborn genetic diseases|CHRNG-Related Disorders|Abnormality of prenatal development or birth

Public references

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