ClinVar

NM_024596.5(MCPH1):c.1428C>T (p.Phe476=)

Gene:

MCPH1:microcephalin 1 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

8p23.1

Genomic location:

• Chr8: 6445150 (on Assembly GRCh38)
• Chr8: 6302671 (on Assembly GRCh37)

Preferred name:

NM_024596.5(MCPH1):c.1428C>T (p.Phe476=)

HGVS:

• NC_000008.11:g.6445150C>T
• NG_016619.2:g.43559C>T
• NM_001172574.2:c.1428C>T
• NM_001172575.2:c.1284C>T
• NM_001322042.2:c.1428C>T
• NM_001322043.2:c.1422C>T
• NM_001322045.2:c.1326C>T
• NM_001363979.1:c.1428C>T
• NM_001363980.2:c.1428C>T
• NM_024596.5:c.1428C>TMANE SELECT
• NP_001166045.1:p.Phe476=
• NP_001166045.2:p.Phe476=
• NP_001166046.1:p.Phe428=
• NP_001308971.2:p.Phe476=
• NP_001308972.2:p.Phe474=
• NP_001308974.2:p.Phe442=
• NP_001350908.1:p.Phe476=
• NP_001350909.1:p.Phe476=
• NP_078872.3:p.Phe476=
• NC_000008.10:g.6302671C>T
• NM_001172574.1:c.1428C>T
• NM_024596.3:c.1428C>T
• NP_078872.2:p.(=)
• NR_136159.2:n.1354C>T

This HGVS expression did not pass validation

Links:

dbSNP: rs2920676

NCBI 1000 Genomes Browser:

rs2920676

Molecular consequence:

• NR_136159.2:n.1354C>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]
• NM_001172574.2:c.1428C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001172575.2:c.1284C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001322042.2:c.1428C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001322043.2:c.1422C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001322045.2:c.1326C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001363979.1:c.1428C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001363980.2:c.1428C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_024596.5:c.1428C>T - synonymous variant - [Sequence Ontology: SO:0001819]

Observations:

2