ClinVar

NM_182961.4(SYNE1):c.26272C>G (p.Leu8758Val)

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: 152122558 (on Assembly GRCh38)
• Chr6: 152443693 (on Assembly GRCh37)

Preferred name:

NM_182961.4(SYNE1):c.26272C>G (p.Leu8758Val)

HGVS:

• NC_000006.12:g.152122558G>C
• NG_008493.2:g.470868G>C
• NG_012855.2:g.519842C>G
• NM_001328100.2:c.851-2708G>C
• NM_001347701.2:c.*83C>G
• NM_001347702.2:c.2806C>G
• NM_033071.5:c.26128C>G
• NM_182961.4:c.26272C>GMANE SELECT
• NP_001334631.1:p.Leu936Val
• NP_149062.1:p.Leu8710Val
• NP_149062.2:p.Leu8710Val
• NP_892006.3:p.Leu8758Val
• LRG_427t1:c.26272C>G
• LRG_427t2:c.26128C>G
• LRG_427:g.519842C>G
• LRG_427p1:p.Leu8758Val
• LRG_427p2:p.Leu8710Val
• LRG_992:g.470868G>C
• NC_000006.11:g.152443693G>C
• NM_033071.3:c.26128C>G
• NM_182961.2:c.26272C>G

This HGVS expression did not pass validation

Protein change:

L8710V

Links:

dbSNP: rs139740651

NCBI 1000 Genomes Browser:

rs139740651

Molecular consequence:

• NM_001347701.2:c.*83C>G - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
• NM_001328100.2:c.851-2708G>C - intron variant - [Sequence Ontology: SO:0001627]
• NM_001347702.2:c.2806C>G - missense variant - [Sequence Ontology: SO:0001583]
• NM_033071.5:c.26128C>G - missense variant - [Sequence Ontology: SO:0001583]
• NM_182961.4:c.26272C>G - missense variant - [Sequence Ontology: SO:0001583]