ClinVar

NM_198129.4(LAMA3):c.1032C>T (p.Pro344=)

Gene:

LAMA3:laminin subunit alpha 3 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

18q11.2

Genomic location:

• Chr18: 23758480 (on Assembly GRCh38)
• Chr18: 21338444 (on Assembly GRCh37)

Preferred name:

NM_198129.4(LAMA3):c.1032C>T (p.Pro344=)

HGVS:

• NC_000018.10:g.23758480C>T
• NG_007853.2:g.73883C>T
• NM_001127717.4:c.1032C>T
• NM_001302996.2:c.1032C>T
• NM_198129.4:c.1032C>TMANE SELECT
• NP_001121189.2:p.Pro344=
• NP_001289925.1:p.Pro344=
• NP_937762.2:p.Pro344=
• NC_000018.9:g.21338444C>T
• NC_000018.9:g.21338444C>T
• NM_000227.4:c.-114565C>T
• NR_130106.2:n.1263C>T

This HGVS expression did not pass validation

Links:

dbSNP: rs774453548

NCBI 1000 Genomes Browser:

rs774453548

Molecular consequence:

• NR_130106.2:n.1263C>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]
• NM_001127717.4:c.1032C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001302996.2:c.1032C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_198129.4:c.1032C>T - synonymous variant - [Sequence Ontology: SO:0001819]