ClinVar

NM_033133.5(CNP):c.705G>C (p.Lys235Asn)

Gene:

CNP:2',3'-cyclic nucleotide 3' phosphodiesterase [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

17q21.2

Genomic location:

• Chr17: 41971920 (on Assembly GRCh38)
• Chr17: 40123938 (on Assembly GRCh37)

Preferred name:

NM_033133.5(CNP):c.705G>C (p.Lys235Asn)

HGVS:

• NC_000017.11:g.41971920G>C
• NM_001330216.2:c.645G>C
• NM_033133.4:c.705G>C
• NM_033133.5:c.705G>CMANE SELECT
• NP_001317145.1:p.Lys215Asn
• NP_149124.3:p.Lys235Asn
• NC_000017.10:g.40123938G>C

This HGVS expression did not pass validation

Protein change:

K215N

Molecular consequence:

• NM_001330216.2:c.645G>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_033133.5:c.705G>C - missense variant - [Sequence Ontology: SO:0001583]

Observations:

1