ClinVar

NM_153240.5(NPHP3):c.2805C>T (p.Gly935=)

Genes:

NPHP3-ACAD11:NPHP3-ACAD11 readthrough (NMD candidate) [Gene - HGNC]
NPHP3:nephrocystin 3 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

3q22.1

Genomic location:

• Chr3: 132689152 (on Assembly GRCh38)
• Chr3: 132407996 (on Assembly GRCh37)

Preferred name:

NM_153240.5(NPHP3):c.2805C>T (p.Gly935=)

HGVS:

• NC_000003.12:g.132689152G>A
• NG_008130.2:g.38281C>T
• NM_153240.5:c.2805C>TMANE SELECT
• NP_694972.3:p.Gly935=
• NC_000003.11:g.132407996G>A
• NG_008130.1:g.38281C>T
• NM_153240.4:c.2805C>T
• NR_037804.1:n.2811C>T

This HGVS expression did not pass validation

Links:

dbSNP: rs1281725083

NCBI 1000 Genomes Browser:

rs1281725083

Molecular consequence:

• NR_037804.1:n.2811C>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]
• NM_153240.5:c.2805C>T - synonymous variant - [Sequence Ontology: SO:0001819]

Functional consequence:

effect on RNA splicing [Variation Ontology: 0362]