ClinVar

NM_182961.4(SYNE1):c.26345G>A (p.Arg8782Gln)

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: 152122485 (on Assembly GRCh38)
• Chr6: 152443620 (on Assembly GRCh37)

Preferred name:

NM_182961.4(SYNE1):c.26345G>A (p.Arg8782Gln)

HGVS:

• NC_000006.12:g.152122485C>T
• NG_008493.2:g.470795C>T
• NG_012855.2:g.519915G>A
• NM_001328100.2:c.851-2781C>T
• NM_001347701.2:c.*156G>A
• NM_001347702.2:c.2879G>A
• NM_033071.5:c.26201G>A
• NM_182961.4:c.26345G>AMANE SELECT
• NP_001334631.1:p.Arg960Gln
• NP_149062.1:p.Arg8734Gln
• NP_149062.2:p.Arg8734Gln
• NP_892006.3:p.Arg8782Gln
• LRG_427t1:c.26345G>A
• LRG_427t2:c.26201G>A
• LRG_427:g.519915G>A
• LRG_427p1:p.Arg8782Gln
• LRG_427p2:p.Arg8734Gln
• LRG_992:g.470795C>T
• NC_000006.11:g.152443620C>T
• NM_033071.3:c.26201G>A

This HGVS expression did not pass validation

Protein change:

R8734Q

Links:

dbSNP: rs550697327

NCBI 1000 Genomes Browser:

rs550697327

Molecular consequence:

• NM_001347701.2:c.*156G>A - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
• NM_001328100.2:c.851-2781C>T - intron variant - [Sequence Ontology: SO:0001627]
• NM_001347702.2:c.2879G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_033071.5:c.26201G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_182961.4:c.26345G>A - missense variant - [Sequence Ontology: SO:0001583]

Observations:

1