ClinVar

NM_182961.4(SYNE1):c.26370C>A (p.Tyr8790Ter)

Genes:

ESR1:estrogen receptor 1 [Gene - OMIM - HGNC]
SYNE1:spectrin repeat containing nuclear envelope protein 1 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

6q25.2

Genomic location:

• Chr6: 152122460 (on Assembly GRCh38)
• Chr6: 152443595 (on Assembly GRCh37)

Preferred name:

NM_182961.4(SYNE1):c.26370C>A (p.Tyr8790Ter)

Other names:

p.Tyr8742*

HGVS:

• NC_000006.12:g.152122460G>T
• NG_008493.2:g.470770G>T
• NG_012855.2:g.519940C>A
• NM_001328100.2:c.851-2806G>T
• NM_001347701.2:c.*181C>A
• NM_001347702.2:c.2904C>A
• NM_033071.5:c.26226C>A
• NM_182961.4:c.26370C>AMANE SELECT
• NP_001334631.1:p.Tyr968Ter
• NP_149062.1:p.Tyr8742Ter
• NP_149062.2:p.Tyr8742Ter
• NP_892006.3:p.Tyr8790Ter
• LRG_427t1:c.26370C>A
• LRG_427t2:c.26226C>A
• LRG_427:g.519940C>A
• LRG_427p1:p.Tyr8790Ter
• LRG_427p2:p.Tyr8742Ter
• LRG_992:g.470770G>T
• NC_000006.11:g.152443595G>T
• NM_033071.3:c.26226C>A

This HGVS expression did not pass validation

Protein change:

Y8742*

Links:

dbSNP: rs777985131

NCBI 1000 Genomes Browser:

rs777985131

Molecular consequence:

• NM_001347701.2:c.*181C>A - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
• NM_001328100.2:c.851-2806G>T - intron variant - [Sequence Ontology: SO:0001627]
• NM_001347702.2:c.2904C>A - nonsense - [Sequence Ontology: SO:0001587]
• NM_033071.5:c.26226C>A - nonsense - [Sequence Ontology: SO:0001587]
• NM_182961.4:c.26370C>A - nonsense - [Sequence Ontology: SO:0001587]

Observations:

2