ClinVar

NM_170707.4(LMNA):c.1851C>T (p.Ala617_Ser618=)

Gene:

LMNA:lamin A/C [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

1q22

Genomic location:

• Chr1: 156138640 (on Assembly GRCh38)
• Chr1: 156108431 (on Assembly GRCh37)

Preferred name:

NM_170707.4(LMNA):c.1851C>T (p.Ala617_Ser618=)

HGVS:

• NC_000001.11:g.156138640C>T
• NG_008692.2:g.61068C>T
• NM_001257374.3:c.1515C>T
• NM_001282626.2:c.1818+33C>T
• NM_001406983.1:c.1851C>T
• NM_001406985.1:c.1851C>T
• NM_001406986.1:c.1608C>T
• NM_001406987.1:c.1608C>T
• NM_001406988.1:c.1554C>T
• NM_001406989.1:c.1515C>T
• NM_001406990.1:c.1293C>T
• NM_001406991.1:c.1851C>T
• NM_001406993.1:c.1293C>T
• NM_001406994.1:c.1227C>T
• NM_001406995.1:c.1293C>T
• NM_001406996.1:c.1293C>T
• NM_001406997.1:c.1293C>T
• NM_001406999.1:c.1227C>T
• NM_001407000.1:c.1227C>T
• NM_001407001.1:c.1227C>T
• NM_170707.4:c.1851C>TMANE SELECT
• NM_170708.4:c.1761C>T
• NP_001244303.1:p.Ala505_Ser506=
• NP_001393912.1:p.Ala617=
• NP_001393914.1:p.Ala617=
• NP_001393915.1:p.Ala536=
• NP_001393916.1:p.Ala536=
• NP_001393917.1:p.Ala518=
• NP_001393918.1:p.Ala505=
• NP_001393919.1:p.Ala431=
• NP_001393920.1:p.Ala617=
• NP_001393922.1:p.Ala431=
• NP_001393923.1:p.Ala409=
• NP_001393924.1:p.Ala431=
• NP_001393925.1:p.Ala431=
• NP_001393926.1:p.Ala431=
• NP_001393928.1:p.Ala409=
• NP_001393929.1:p.Ala409=
• NP_001393930.1:p.Ala409=
• NP_733821.1:p.Ala617=
• NP_733821.1:p.Ala617_Ser618=
• NP_733822.1:p.Ala587=
• NP_733822.1:p.Ala587_Ser588=
• LRG_254t1:c.*876C>T
• LRG_254t2:c.1851C>T
• LRG_254t3:c.1761C>T
• LRG_254:g.61068C>T
• LRG_254p2:p.Ala617=
• LRG_254p3:p.Ala587=
• NC_000001.10:g.156108431C>T
• NM_005572.3:c.*876C>T
• NM_170707.2:c.1851C>T
• NM_170707.3:c.1851C>T
• NM_170708.2:c.1761C>T
• c.1851C>T
• p.Ala617Ala

This HGVS expression did not pass validation

Links:

dbSNP: rs143189394

NCBI 1000 Genomes Browser:

rs143189394

Molecular consequence:

• NM_001282626.2:c.1818+33C>T - intron variant - [Sequence Ontology: SO:0001627]
• NM_001257374.3:c.1515C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001406983.1:c.1851C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001406985.1:c.1851C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001406986.1:c.1608C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001406987.1:c.1608C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001406988.1:c.1554C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001406989.1:c.1515C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001406990.1:c.1293C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001406991.1:c.1851C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001406993.1:c.1293C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001406994.1:c.1227C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001406995.1:c.1293C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001406996.1:c.1293C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001406997.1:c.1293C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001406999.1:c.1227C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001407000.1:c.1227C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001407001.1:c.1227C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_170707.4:c.1851C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_170708.4:c.1761C>T - synonymous variant - [Sequence Ontology: SO:0001819]