ClinVar

NM_182961.4(SYNE1):c.26391C>T (p.Leu8797=)

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: 152122439 (on Assembly GRCh38)
• Chr6: 152443574 (on Assembly GRCh37)

Preferred name:

NM_182961.4(SYNE1):c.26391C>T (p.Leu8797=)

HGVS:

• NC_000006.12:g.152122439G>A
• NG_008493.2:g.470749G>A
• NG_012855.2:g.519961C>T
• NM_001328100.2:c.851-2827G>A
• NM_001347701.2:c.*202C>T
• NM_001347702.2:c.2925C>T
• NM_033071.5:c.26247C>T
• NM_182961.4:c.26391C>TMANE SELECT
• NP_001334631.1:p.Leu975=
• NP_149062.1:p.Leu8749=
• NP_149062.2:p.Leu8749=
• NP_892006.3:p.Leu8797=
• LRG_427t1:c.26391C>T
• LRG_427t2:c.26247C>T
• LRG_427:g.519961C>T
• LRG_427p1:p.Leu8797=
• LRG_427p2:p.Leu8749=
• LRG_992:g.470749G>A
• NC_000006.11:g.152443574G>A
• NM_033071.3:c.26247C>T

This HGVS expression did not pass validation

Links:

dbSNP: rs201891399

NCBI 1000 Genomes Browser:

rs201891399

Molecular consequence:

• NM_001347701.2:c.*202C>T - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
• NM_001328100.2:c.851-2827G>A - intron variant - [Sequence Ontology: SO:0001627]
• NM_001347702.2:c.2925C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_033071.5:c.26247C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_182961.4:c.26391C>T - synonymous variant - [Sequence Ontology: SO:0001819]