ClinVar

NM_024596.5(MCPH1):c.1434A>C (p.Ala478=)

Gene:

MCPH1:microcephalin 1 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

8p23.1

Genomic location:

• Chr8: 6445156 (on Assembly GRCh38)
• Chr8: 6302677 (on Assembly GRCh37)

Preferred name:

NM_024596.5(MCPH1):c.1434A>C (p.Ala478=)

HGVS:

• NC_000008.11:g.6445156A>C
• NG_016619.2:g.43565A>C
• NG_016619.3:g.43531A>C
• NM_001172574.2:c.1434A>C
• NM_001172575.2:c.1290A>C
• NM_001322042.2:c.1434A>C
• NM_001322043.2:c.1428A>C
• NM_001322045.2:c.1332A>C
• NM_001363979.1:c.1434A>C
• NM_001363980.2:c.1434A>C
• NM_001410916.1:c.1434A>C
• NM_001410917.1:c.1434A>C
• NM_024596.5:c.1434A>CMANE SELECT
• NP_001166045.2:p.Ala478=
• NP_001166046.1:p.Ala430=
• NP_001308971.2:p.Ala478=
• NP_001308972.2:p.Ala476=
• NP_001308974.2:p.Ala444=
• NP_001350908.1:p.Ala478=
• NP_001350909.1:p.Ala478=
• NP_001397845.1:p.Ala478=
• NP_001397846.1:p.Ala478=
• NP_078872.3:p.Ala478=
• NC_000008.10:g.6302677A>C
• NR_136159.2:n.1360A>C

This HGVS expression did not pass validation

Molecular consequence:

• NR_136159.2:n.1360A>C - non-coding transcript variant - [Sequence Ontology: SO:0001619]
• NM_001172574.2:c.1434A>C - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001172575.2:c.1290A>C - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001322042.2:c.1434A>C - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001322043.2:c.1428A>C - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001322045.2:c.1332A>C - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001363979.1:c.1434A>C - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001363980.2:c.1434A>C - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001410916.1:c.1434A>C - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001410917.1:c.1434A>C - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_024596.5:c.1434A>C - synonymous variant - [Sequence Ontology: SO:0001819]