ClinVar

NM_005984.5(SLC25A1):c.600C>T (p.Phe200=)

Gene:

SLC25A1:solute carrier family 25 member 1 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

22q11.21

Genomic location:

• Chr22: 19176877 (on Assembly GRCh38)
• Chr22: 19164390 (on Assembly GRCh37)

Preferred name:

NM_005984.5(SLC25A1):c.600C>T (p.Phe200=)

HGVS:

• NC_000022.11:g.19176877G>A
• NG_033863.1:g.6987C>T
• NM_001256534.2:c.621C>T
• NM_001287387.2:c.291C>T
• NM_005984.5:c.600C>TMANE SELECT
• NP_001243463.1:p.Phe207=
• NP_001274316.1:p.Phe97=
• NP_005975.1:p.Phe200=
• NC_000022.10:g.19164390G>A
• NR_033687.2:n.625C>T
• NR_046298.3:n.524C>T

This HGVS expression did not pass validation

Molecular consequence:

• NR_046298.3:n.524C>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]
• NM_001256534.2:c.621C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001287387.2:c.291C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_005984.5:c.600C>T - synonymous variant - [Sequence Ontology: SO:0001819]