ClinVar

NM_001385012.1(NBEA):c.5279G>A (p.Cys1760Tyr)

Gene:

NBEA:neurobeachin [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

13q13.3

Genomic location:

• Chr13: 35196215 (on Assembly GRCh38)
• Chr13: 35770352 (on Assembly GRCh37)

Preferred name:

NM_001385012.1(NBEA):c.5279G>A (p.Cys1760Tyr)

HGVS:

• NC_000013.11:g.35196215G>A
• NG_028156.1:g.258929G>A
• NM_001379245.1:c.5270G>A
• NM_001385012.1:c.5279G>AMANE SELECT
• NM_015678.5:c.5279G>A
• NP_001366174.1:p.Cys1757Tyr
• NP_001371941.1:p.Cys1760Tyr
• NP_056493.3:p.Cys1760Tyr
• LRG_602t1:c.5279G>A
• LRG_602t3:c.5279G>A
• LRG_602:g.258929G>A
• LRG_602p1:p.Cys1760Tyr
• LRG_602p3:p.Cys1760Tyr
• NC_000013.10:g.35770352G>A
• NM_015678.4:c.5279G>A

This HGVS expression did not pass validation

Protein change:

C1757Y

Links:

dbSNP: rs372882596

NCBI 1000 Genomes Browser:

rs372882596

Molecular consequence:

• NM_001379245.1:c.5270G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001385012.1:c.5279G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_015678.5:c.5279G>A - missense variant - [Sequence Ontology: SO:0001583]

Observations:

1