ClinVar

NM_020964.3(EPG5):c.4039A>C (p.Asn1347His)

Gene:

EPG5:ectopic P-granules 5 autophagy tethering factor [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

18q21.1

Genomic location:

• Chr18: 45910687 (on Assembly GRCh38)
• Chr18: 43490652 (on Assembly GRCh37)

Preferred name:

NM_020964.3(EPG5):c.4039A>C (p.Asn1347His)

HGVS:

• NC_000018.10:g.45910687T>G
• NG_042838.1:g.61653A>C
• NM_020964.3:c.4039A>CMANE SELECT
• NP_066015.2:p.Asn1347His
• LRG_1234t1:c.4039A>C
• LRG_1234:g.61653A>C
• LRG_1234p1:p.Asn1347His
• NC_000018.9:g.43490652T>G
• NM_020964.2:c.4039A>C

This HGVS expression did not pass validation

Protein change:

N1347H

Links:

dbSNP: rs144860976

NCBI 1000 Genomes Browser:

rs144860976

Molecular consequence:

• NM_020964.3:c.4039A>C - missense variant - [Sequence Ontology: SO:0001583]