ClinVar

NM_001297.5(CNGB1):c.190G>T (p.Val64Leu)

Gene:

CNGB1:cyclic nucleotide gated channel subunit beta 1 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

16q21

Genomic location:

• Chr16: 57964514 (on Assembly GRCh38)
• Chr16: 57998418 (on Assembly GRCh37)

Preferred name:

NM_001297.5(CNGB1):c.190G>T (p.Val64Leu)

HGVS:

• NC_000016.10:g.57964514C>A
• NG_016351.1:g.11603G>T
• NG_139668.1:g.30C>A
• NM_001135639.2:c.190G>T
• NM_001286130.2:c.190G>T
• NM_001297.5:c.190G>TMANE SELECT
• NP_001129111.1:p.Val64Leu
• NP_001273059.1:p.Val64Leu
• NP_001288.3:p.Val64Leu
• NC_000016.9:g.57998418C>A

This HGVS expression did not pass validation

Protein change:

V64L

Molecular consequence:

• NM_001135639.2:c.190G>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001286130.2:c.190G>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001297.5:c.190G>T - missense variant - [Sequence Ontology: SO:0001583]