ClinVar

NM_014284.3(NCDN):c.225G>T (p.Arg75=)

Gene:

NCDN:neurochondrin [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

1p34.3

Genomic location:

• Chr1: 35560376 (on Assembly GRCh38)
• Chr1: 36025977 (on Assembly GRCh37)

Preferred name:

NM_014284.3(NCDN):c.225G>T (p.Arg75=)

HGVS:

• NC_000001.11:g.35560376G>T
• NG_090536.1:g.280G>T
• NM_001014839.2:c.225G>T
• NM_001014841.2:c.174G>T
• NM_014284.3:c.225G>TMANE SELECT
• NP_001014839.1:p.Arg75=
• NP_001014841.1:p.Arg58=
• NP_055099.1:p.Arg75=
• NC_000001.10:g.36025977G>T

This HGVS expression did not pass validation

Molecular consequence:

• NM_001014839.2:c.225G>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001014841.2:c.174G>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_014284.3:c.225G>T - synonymous variant - [Sequence Ontology: SO:0001819]

Observations:

12