ClinVar

NM_182961.4(SYNE1):c.14644C>T (p.Arg4882Ter)

Gene:

SYNE1:spectrin repeat containing nuclear envelope protein 1 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

6q25.2

Genomic location:

• Chr6: 152330041 (on Assembly GRCh38)
• Chr6: 152651176 (on Assembly GRCh37)

Preferred name:

NM_182961.4(SYNE1):c.14644C>T (p.Arg4882Ter)

HGVS:

• NC_000006.12:g.152330041G>A
• NG_012855.2:g.312359C>T
• NM_033071.5:c.14431C>T
• NM_182961.4:c.14644C>TMANE SELECT
• NP_149062.1:p.Arg4811Ter
• NP_149062.2:p.Arg4811Ter
• NP_892006.3:p.Arg4882Ter
• LRG_427t1:c.14644C>T
• LRG_427t2:c.14431C>T
• LRG_427:g.312359C>T
• LRG_427p1:p.Arg4882Ter
• LRG_427p2:p.Arg4811Ter
• NC_000006.11:g.152651176G>A
• NM_033071.3:c.14431C>T

This HGVS expression did not pass validation

Protein change:

R4811*

Links:

dbSNP: rs375077588

NCBI 1000 Genomes Browser:

rs375077588

Molecular consequence:

• NM_033071.5:c.14431C>T - nonsense - [Sequence Ontology: SO:0001587]
• NM_182961.4:c.14644C>T - nonsense - [Sequence Ontology: SO:0001587]

Observations:

2