ClinVar

NM_182961.4(SYNE1):c.12350C>T (p.Thr4117Met)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

6q25.2

Genomic location:

• Chr6: 152339242 (on Assembly GRCh38)
• Chr6: 152660377 (on Assembly GRCh37)

Preferred name:

NM_182961.4(SYNE1):c.12350C>T (p.Thr4117Met)

HGVS:

• NC_000006.12:g.152339242G>A
• NG_012855.2:g.303158C>T
• NM_033071.5:c.12137C>T
• NM_182961.4:c.12350C>TMANE SELECT
• NP_149062.1:p.Thr4046Met
• NP_149062.2:p.Thr4046Met
• NP_892006.3:p.Thr4117Met
• LRG_427t1:c.12350C>T
• LRG_427t2:c.12137C>T
• LRG_427:g.303158C>T
• LRG_427p1:p.Thr4117Met
• LRG_427p2:p.Thr4046Met
• NC_000006.11:g.152660377G>A
• NM_033071.3:c.12137C>T
• NM_182961.2:c.12350C>T

This HGVS expression did not pass validation

Protein change:

T4046M

Links:

dbSNP: rs146567178

NCBI 1000 Genomes Browser:

rs146567178

Molecular consequence:

• NM_033071.5:c.12137C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_182961.4:c.12350C>T - missense variant - [Sequence Ontology: SO:0001583]

Observations:

1