ClinVar

NM_198696.3(KRTAP10-3):c.317A>T (p.Lys106Met)

Genes:

KRTAP10-3:keratin associated protein 10-3 [Gene - HGNC]
TSPEAR:thrombospondin type laminin G domain and EAR repeats [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

21q22.3

Genomic location:

• Chr21: 44558399 (on Assembly GRCh38)
• Chr21: 45978282 (on Assembly GRCh37)

Preferred name:

NM_198696.3(KRTAP10-3):c.317A>T (p.Lys106Met)

HGVS:

• NC_000021.9:g.44558399T>A
• NG_033806.1:g.158180A>T
• NG_033806.2:g.158173A>T
• NG_050765.1:g.5362A>T
• NM_001272037.2:c.99+9386A>T
• NM_144991.3:c.303+9386A>TMANE SELECT
• NM_198696.3:c.317A>TMANE SELECT
• NP_941969.2:p.Lys106Met
• NC_000021.8:g.45978282T>A
• NM_198696.2:c.317A>T

This HGVS expression did not pass validation

Protein change:

K106M

Molecular consequence:

• NM_001272037.2:c.99+9386A>T - intron variant - [Sequence Ontology: SO:0001627]
• NM_144991.3:c.303+9386A>T - intron variant - [Sequence Ontology: SO:0001627]
• NM_198696.3:c.317A>T - missense variant - [Sequence Ontology: SO:0001583]