ClinVar

NM_015102.5(NPHP4):c.263G>A (p.Arg88Lys)

Gene:

NPHP4:nephrocystin 4 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

1p36.31

Genomic location:

• Chr1: 5978286 (on Assembly GRCh38)
• Chr1: 6038346 (on Assembly GRCh37)

Preferred name:

NM_015102.5(NPHP4):c.263G>A (p.Arg88Lys)

HGVS:

• NC_000001.11:g.5978286C>T
• NG_011724.2:g.19186G>A
• NM_001291593.2:c.-967G>A
• NM_001291594.2:c.-1087-9027G>A
• NM_015102.5:c.263G>AMANE SELECT
• NP_055917.1:p.Arg88Lys
• NC_000001.10:g.6038346C>T
• NR_111987.2:n.483G>A

This HGVS expression did not pass validation

Protein change:

R88K

Links:

dbSNP: rs886044065

NCBI 1000 Genomes Browser:

rs886044065

Molecular consequence:

• NM_001291593.2:c.-967G>A - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
• NM_001291594.2:c.-1087-9027G>A - intron variant - [Sequence Ontology: SO:0001627]
• NM_015102.5:c.263G>A - missense variant - [Sequence Ontology: SO:0001583]
• NR_111987.2:n.483G>A - non-coding transcript variant - [Sequence Ontology: SO:0001619]

Observations:

1