ClinVar

NM_005573.4(LMNB1):c.141C>T (p.Ile47=)

Gene:

LMNB1:lamin B1 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

5q23.2

Genomic location:

• Chr5: 126777649 (on Assembly GRCh38)
• Chr5: 126113341 (on Assembly GRCh37)

Preferred name:

NM_005573.4(LMNB1):c.141C>T (p.Ile47=)

HGVS:

• NC_000005.10:g.126777649C>T
• NG_008360.2:g.5509C>T
• NM_001198557.2:c.-272+405C>T
• NM_005573.4:c.141C>TMANE SELECT
• NP_005564.1:p.Ile47=
• NC_000005.9:g.126113341C>T
• NM_005573.3:c.141C>T
• NR_134488.1:n.1027C>T

This HGVS expression did not pass validation

Links:

dbSNP: rs755177047

NCBI 1000 Genomes Browser:

rs755177047

Molecular consequence:

• NM_001198557.2:c.-272+405C>T - intron variant - [Sequence Ontology: SO:0001627]
• NR_134488.1:n.1027C>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]
• NM_005573.4:c.141C>T - synonymous variant - [Sequence Ontology: SO:0001819]