ClinVar

NM_001256545.2(MEGF10):c.1533C>T (p.Asp511=)

Gene:

MEGF10:multiple EGF like domains 10 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

5q23.2

Genomic location:

• Chr5: 127420150 (on Assembly GRCh38)
• Chr5: 126755842 (on Assembly GRCh37)

Preferred name:

NM_001256545.2(MEGF10):c.1533C>T (p.Asp511=)

HGVS:

• NC_000005.10:g.127420150C>T
• NG_032072.2:g.134387C>T
• NM_001256545.2:c.1533C>TMANE SELECT
• NM_001308119.2:c.1533C>T
• NM_001308121.2:c.1533C>T
• NM_032446.3:c.1533C>T
• NP_001243474.1:p.Asp511=
• NP_001295048.1:p.Asp511=
• NP_001295050.1:p.Asp511=
• NP_115822.1:p.Asp511=
• NC_000005.9:g.126755842C>T
• NM_032446.2:c.1533C>T

This HGVS expression did not pass validation

Links:

dbSNP: rs151266058

NCBI 1000 Genomes Browser:

rs151266058

Molecular consequence:

• NM_001256545.2:c.1533C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001308119.2:c.1533C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001308121.2:c.1533C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_032446.3:c.1533C>T - synonymous variant - [Sequence Ontology: SO:0001819]