ClinVar

NM_001128178.3(NPHP1):c.1932C>T (p.Gly644=)

Gene:

NPHP1:nephrocystin 1 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

2q13

Genomic location:

• Chr2: 110123893 (on Assembly GRCh38)
• Chr2: 110881470 (on Assembly GRCh37)

Preferred name:

NM_001128178.3(NPHP1):c.1932C>T (p.Gly644=)

HGVS:

• NC_000002.12:g.110123893G>A
• NG_008287.1:g.86170C>T
• NM_000272.5:c.2100C>T
• NM_001128178.3:c.1932C>TMANE SELECT
• NM_001128179.3:c.1743C>T
• NM_001374256.1:c.1929C>T
• NM_001374257.1:c.*174C>T
• NM_207181.4:c.2097C>T
• NP_000263.2:p.Gly700=
• NP_001121650.1:p.Gly644=
• NP_001121651.1:p.Gly581=
• NP_001361185.1:p.Gly643=
• NP_997064.2:p.Gly699=
• NC_000002.11:g.110881470G>A
• NM_000272.3:c.2100C>T

This HGVS expression did not pass validation

Links:

dbSNP: rs200631256

NCBI 1000 Genomes Browser:

rs200631256

Molecular consequence:

• NM_001374257.1:c.*174C>T - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
• NM_000272.5:c.2100C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001128178.3:c.1932C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001128179.3:c.1743C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001374256.1:c.1929C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_207181.4:c.2097C>T - synonymous variant - [Sequence Ontology: SO:0001819]

Observations:

1