Variant (rsID / SNP)

rs143044921

rs143044921 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to FREM2. Location: chromosome 13, position 39,265,512. Clinical significance in the table: Benign/Likely benign.

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Reference-table entries

FREM2Benign

Clinical significance (as recorded): Benign/Likely benign
Variant type: single nucleotide variant
Chromosome / position: 13:39265512
Cytoband: 13q13.3
HGVS: NM_207361.6(FREM2):c.4031G>A (p.Arg1344His)
Allele change: Missense_R1344H

Associated conditions / phenotypes

Fraser syndrome 2|Congenital diaphragmatic hernia|Congenital anomaly of kidney and urinary tract

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.