ClinVar

NM_000140.5(FECH):c.452C>T (p.Ser151Phe)

Gene:

FECH:ferrochelatase [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

18q21.31

Genomic location:

• Chr18: 57571403 (on Assembly GRCh38)
• Chr18: 55238635 (on Assembly GRCh37)

Preferred name:

NM_000140.5(FECH):c.452C>T (p.Ser151Phe)

Other names:

p.Ser151Phe

HGVS:

• NC_000018.10:g.57571403G>A
• NG_008175.1:g.20335C>T
• NM_000140.5:c.452C>TMANE SELECT
• NM_001012515.4:c.470C>T
• NM_001371094.1:c.452C>T
• NM_001371095.1:c.236C>T
• NM_001374778.1:c.452C>T
• NP_000131.2:p.Ser151Phe
• NP_001012533.1:p.Ser157Phe
• NP_001358023.1:p.Ser151Phe
• NP_001358024.1:p.Ser79Phe
• NP_001361707.1:p.Ser151Phe
• LRG_1080t1:c.452C>T
• LRG_1080t2:c.470C>T
• LRG_1080:g.20335C>T
• LRG_1080p1:p.Ser151Phe
• LRG_1080p2:p.Ser157Phe
• NC_000018.9:g.55238635G>A
• NM_000140.4:c.452C>T

This HGVS expression did not pass validation

Protein change:

S151F

Links:

dbSNP: rs765875996

NCBI 1000 Genomes Browser:

rs765875996

Molecular consequence:

• NM_000140.5:c.452C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001012515.4:c.470C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001371094.1:c.452C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001371095.1:c.236C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001374778.1:c.452C>T - missense variant - [Sequence Ontology: SO:0001583]