ClinVar

NM_022169.5(ABCG4):c.461C>T (p.Pro154Leu)

Gene:

ABCG4:ATP binding cassette subfamily G member 4 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

11q23.3

Genomic location:

• Chr11: 119154364 (on Assembly GRCh38)
• Chr11: 119025074 (on Assembly GRCh37)

Preferred name:

NM_022169.5(ABCG4):c.461C>T (p.Pro154Leu)

HGVS:

• NC_000011.10:g.119154364C>T
• NG_047178.1:g.10325C>T
• NM_001142505.1:c.461C>T
• NM_001348191.2:c.461C>T
• NM_001348192.2:c.278C>T
• NM_022169.5:c.461C>TMANE SELECT
• NP_001135977.1:p.Pro154Leu
• NP_001335120.1:p.Pro154Leu
• NP_001335121.1:p.Pro93Leu
• NP_071452.2:p.Pro154Leu
• NC_000011.9:g.119025074C>T
• NM_022169.4:c.461C>T

This HGVS expression did not pass validation

Protein change:

P154L

Molecular consequence:

• NM_001142505.1:c.461C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001348191.2:c.461C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001348192.2:c.278C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_022169.5:c.461C>T - missense variant - [Sequence Ontology: SO:0001583]