ClinVar

NM_170707.4(LMNA):c.51C>T (p.Ser17=)

Genes:

LOC129931597:ATAC-STARR-seq lymphoblastoid silent region 1421 [Gene]
LMNA:lamin A/C [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

1q22

Genomic location:

• Chr1: 156114969 (on Assembly GRCh38)
• Chr1: 156084760 (on Assembly GRCh37)

Preferred name:

NM_170707.4(LMNA):c.51C>T (p.Ser17=)

HGVS:

• NC_000001.11:g.156114969C>T
• NG_008692.2:g.37397C>T
• NM_001282625.2:c.51C>T
• NM_001282626.2:c.51C>T
• NM_005572.4:c.51C>T
• NM_170707.4:c.51C>TMANE SELECT
• NM_170708.4:c.51C>T
• NP_001269554.1:p.Ser17=
• NP_001269554.1:p.Ser17=
• NP_001269555.1:p.Ser17=
• NP_005563.1:p.Ser17=
• NP_005563.1:p.Ser17=
• NP_733821.1:p.Ser17=
• NP_733822.1:p.Ser17=
• LRG_254t1:c.51C>T
• LRG_254t2:c.51C>T
• LRG_254t3:c.51C>T
• LRG_254:g.37397C>T
• LRG_254p1:p.Ser17=
• NC_000001.10:g.156084760C>T
• NM_001282625.1:c.51C>T
• NM_005572.3:c.51C>T
• NM_170707.2:c.51C>T
• NM_170707.3:c.51C>T
• NM_170708.2:c.51C>T
• NP_005563.1:p.(=)
• c.51C>T

This HGVS expression did not pass validation

Links:

dbSNP: rs11549668

NCBI 1000 Genomes Browser:

rs11549668

Molecular consequence:

• NM_001282625.2:c.51C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001282626.2:c.51C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_005572.4:c.51C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_170707.4:c.51C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_170708.4:c.51C>T - synonymous variant - [Sequence Ontology: SO:0001819]

Observations:

64