ClinVar

NM_024596.5(MCPH1):c.1403C>A (p.Thr468Asn)

Gene:

MCPH1:microcephalin 1 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

8p23.1

Genomic location:

• Chr8: 6445125 (on Assembly GRCh38)
• Chr8: 6302646 (on Assembly GRCh37)

Preferred name:

NM_024596.5(MCPH1):c.1403C>A (p.Thr468Asn)

HGVS:

• NC_000008.11:g.6445125C>A
• NG_016619.2:g.43534C>A
• NM_001172574.2:c.1403C>A
• NM_001172575.2:c.1259C>A
• NM_001322042.1:c.1403C>A
• NM_001322042.2:c.1403C>A
• NM_001322043.2:c.1397C>A
• NM_001322045.2:c.1301C>A
• NM_001363979.1:c.1403C>A
• NM_001363980.2:c.1403C>A
• NM_024596.5:c.1403C>AMANE SELECT
• NP_001166045.2:p.Thr468Asn
• NP_001166046.1:p.Thr420Asn
• NP_001308971.2:p.Thr468Asn
• NP_001308972.2:p.Thr466Asn
• NP_001308974.2:p.Thr434Asn
• NP_001350908.1:p.Thr468Asn
• NP_001350909.1:p.Thr468Asn
• NP_078872.3:p.Thr468Asn
• NC_000008.10:g.6302646C>A
• NM_024596.3:c.1403C>A
• NM_024596.4:c.1403C>A
• NR_136159.2:n.1329C>A

This HGVS expression did not pass validation

Protein change:

T420N

Links:

dbSNP: rs548329168

NCBI 1000 Genomes Browser:

rs548329168

Molecular consequence:

• NM_001172574.2:c.1403C>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001172575.2:c.1259C>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001322042.2:c.1403C>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001322043.2:c.1397C>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001322045.2:c.1301C>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001363979.1:c.1403C>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001363980.2:c.1403C>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_024596.5:c.1403C>A - missense variant - [Sequence Ontology: SO:0001583]
• NR_136159.2:n.1329C>A - non-coding transcript variant - [Sequence Ontology: SO:0001619]