ClinVar

NM_182961.4(SYNE1):c.26206T>G (p.Ser8736Ala)

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: 152122624 (on Assembly GRCh38)
• Chr6: 152443759 (on Assembly GRCh37)

Preferred name:

NM_182961.4(SYNE1):c.26206T>G (p.Ser8736Ala)

HGVS:

• NC_000006.12:g.152122624A>C
• NG_008493.2:g.470934A>C
• NG_012855.2:g.519776T>G
• NM_001328100.2:c.851-2642A>C
• NM_001347701.2:c.*17T>G
• NM_001347702.2:c.2740T>G
• NM_033071.5:c.26062T>G
• NM_182961.4:c.26206T>GMANE SELECT
• NP_001334631.1:p.Ser914Ala
• NP_149062.1:p.Ser8688Ala
• NP_149062.2:p.Ser8688Ala
• NP_892006.3:p.Ser8736Ala
• LRG_427t1:c.26206T>G
• LRG_427t2:c.26062T>G
• LRG_427:g.519776T>G
• LRG_427p1:p.Ser8736Ala
• LRG_427p2:p.Ser8688Ala
• LRG_992:g.470934A>C
• NC_000006.11:g.152443759A>C
• NM_033071.3:c.26062T>G

This HGVS expression did not pass validation

Protein change:

S8688A

Links:

dbSNP: rs886044316

NCBI 1000 Genomes Browser:

rs886044316

Molecular consequence:

• NM_001347701.2:c.*17T>G - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
• NM_001328100.2:c.851-2642A>C - intron variant - [Sequence Ontology: SO:0001627]
• NM_001347702.2:c.2740T>G - missense variant - [Sequence Ontology: SO:0001583]
• NM_033071.5:c.26062T>G - missense variant - [Sequence Ontology: SO:0001583]
• NM_182961.4:c.26206T>G - missense variant - [Sequence Ontology: SO:0001583]

Observations:

1