ClinVar

NM_015154.3(MESD):c.85C>T (p.Pro29Ser)

Genes:

LOC121530597:Sharpr-MPRA regulatory region 7880 [Gene]
MESD:mesoderm development LRP chaperone [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

15q25.1

Genomic location:

• Chr15: 80989707 (on Assembly GRCh38)
• Chr15: 81282048 (on Assembly GRCh37)

Preferred name:

NM_015154.3(MESD):c.85C>T (p.Pro29Ser)

HGVS:

• NC_000015.10:g.80989707G>A
• NG_074795.1:g.40G>A
• NG_074795.2:g.293G>A
• NM_015154.3:c.85C>TMANE SELECT
• NP_055969.1:p.Pro29Ser
• NC_000015.9:g.81282048G>A
• NM_015154.1:c.85C>T
• NR_126327.2:n.113C>T
• NR_126328.2:n.113C>T

This HGVS expression did not pass validation

Protein change:

P29S

Molecular consequence:

• NM_015154.3:c.85C>T - missense variant - [Sequence Ontology: SO:0001583]
• NR_126327.2:n.113C>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]
• NR_126328.2:n.113C>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]