ClinVar

NM_024596.5(MCPH1):c.1458A>G (p.Lys486=)

Gene:

MCPH1:microcephalin 1 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

8p23.1

Genomic location:

• Chr8: 6445180 (on Assembly GRCh38)
• Chr8: 6302701 (on Assembly GRCh37)

Preferred name:

NM_024596.5(MCPH1):c.1458A>G (p.Lys486=)

HGVS:

• NC_000008.11:g.6445180A>G
• NG_016619.2:g.43589A>G
• NM_001172574.2:c.1458A>G
• NM_001172575.2:c.1314A>G
• NM_001322042.2:c.1458A>G
• NM_001322043.2:c.1452A>G
• NM_001322045.2:c.1356A>G
• NM_001363979.1:c.1458A>G
• NM_001363980.2:c.1458A>G
• NM_024596.5:c.1458A>GMANE SELECT
• NP_001166045.2:p.Lys486=
• NP_001166046.1:p.Lys438=
• NP_001308971.2:p.Lys486=
• NP_001308972.2:p.Lys484=
• NP_001308974.2:p.Lys452=
• NP_001350908.1:p.Lys486=
• NP_001350909.1:p.Lys486=
• NP_078872.3:p.Lys486=
• NC_000008.10:g.6302701A>G
• NM_024596.3:c.1458A>G
• NM_024596.4:c.1458A>G
• NR_136159.2:n.1384A>G

This HGVS expression did not pass validation

Links:

dbSNP: rs192003514

NCBI 1000 Genomes Browser:

rs192003514

Molecular consequence:

• NR_136159.2:n.1384A>G - non-coding transcript variant - [Sequence Ontology: SO:0001619]
• NM_001172574.2:c.1458A>G - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001172575.2:c.1314A>G - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001322042.2:c.1458A>G - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001322043.2:c.1452A>G - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001322045.2:c.1356A>G - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001363979.1:c.1458A>G - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001363980.2:c.1458A>G - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_024596.5:c.1458A>G - synonymous variant - [Sequence Ontology: SO:0001819]